A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm
ConclusionIn conclusion, we identified a novelSMAD6 variant causing a severely calcified BAV and TAA, which contributes to our understanding of the clinical and genetic background ofSMAD6‐related BAV. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 8, 2019 Category: Genetics & Stem Cells Authors: Jong Eun Park, Jin Seok Park, Shin Yi Jang, Seok Hee Park, Jong ‐Won Kim, Chang‐Seok Ki, Duk‐Kyung Kim Tags: ORIGINAL ARTICLE Source Type: research

Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses
Ocular complications with significant reduction in visual acuity are common in MPS patients. Diagnostic problems may arise in these patients with severe corneal opacification, especially for those with MPS VI and MPS I. AbstractBackgroundMucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in various tissues and organs. Ocular problems that affect the cornea, trabecular meshwork, sclera, retina, and optic nerve are very common in these patients. However, there was limited literature focusing on comprehensive ocular findings in different types o...
Source: Molecular Genetics & Genomic Medicine - March 8, 2019 Category: Genetics & Stem Cells Authors: Hsiang ‐Yu Lin, Wei‐Chun Chan, Lee‐Jen Chen, Yuan‐Chieh Lee, Shu‐I Yeh, Dau‐Ming Niu, Pao Chin Chiu, Wen‐Hui Tsai, Wuh‐Liang Hwu, Chih‐Kuang Chuang, Shuan‐Pei Lin Tags: ORIGINAL ARTICLE Source Type: research

The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas
ConclusionOur data support the correlation of the p.Arg1038Gly missense substitution with the cutaneous phenotype without neurofibromas or other complications. This finding may have relevant implications for patients and genetic counseling, but also to get insights into the function of neurofibromin. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 6, 2019 Category: Genetics & Stem Cells Authors: Eva Trevisson, Valeria Morbidoni, Monica Forzan, Cecilia Daolio, Valentina Fumini, Raffaele Parrozzani, Matteo Cassina, Edoardo Midena, Leonardo Salviati, Maurizio Clementi Tags: ORIGINAL ARTICLE Source Type: research

Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families
ConclusionsEightFBN1 mutations were identified in Chinese families with MFS and related disorder. These data expandsFBN1mutation spectrum and further emphasizes the role ofFBN1 in the pathogenesis of MFS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2019 Category: Genetics & Stem Cells Authors: Bo Gong, Lan Yang, Qingwei Wang, Zimeng Ye, Xiaoxin Guo, Chen Yang, Fang Hao, Yi Shi, Yi Huang, Chao Qu, Zhenglin Yang Tags: ORIGINAL ARTICLE Source Type: research

Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening
ConclusionsFamilies and adults living with hemophilia are more supportive of screening for information and preparation purposes than to prevent boys with hemophilia from being born. A distinction was made between preventing the disease and preventing the lives of people with it, with support shown for the use of screening to achieve the former, but not at the expense of the latter. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2019 Category: Genetics & Stem Cells Authors: Felicity K. Boardman, Rachel Hale, Raksha Gohel, Philip J. Young Tags: ORIGINAL ARTICLE Source Type: research

Association between ADIPOQ G276T and C11377G polymorphisms and the risk of non ‐alcoholic fatty liver disease: An updated meta‐analysis
ConclusionADIPOQ gene −11377C>G may be a risk factor for NAFLD, while there was no association betweenADIPOQ gene +276G>T polymorphism and the risk of NAFLD. Further studies are needed to detect the relationship between theseADIPOQ polymorphisms and NAFLD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2019 Category: Genetics & Stem Cells Authors: Mengwei Liu, Shan Liu, Mengke Shang, Xiuping Liu, Yue Wang, Qian Li, Michael Mambiya, Luping Yang, Qian Zhang, Kaili Zhang, Fangfang Nie, Fanxin Zeng, Wanyang Liu Tags: ORIGINAL ARTICLE Source Type: research

Association of NKX2 ‐5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children
ConclusionsSignificantly higher frequency of different allelle of five variants was observed in cases when compared to the control group, with significant risky effect for the development of septal defect. In addition to two polymorphisms ofNKX2 ‐5 (rs2277923, rs28936670)variant in the cardiac septal defect, two variants inGATA4 (rs368418329, rs56166237) and one variant inTBX5 (rs6489957) seem to have a role in the pathogenesis of congenital heart disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2019 Category: Genetics & Stem Cells Authors: Eman G. Behiry, Mahmoud A. Al ‐Azzouny, Dina Sabry, Ola G. Behairy, Nessrine E. Salem Tags: ORIGINAL ARTICLE Source Type: research

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female
ConclusionThe major inhibitory neurotransmitter, γ‐aminobutyric acid (GABA), is increased in SSADHD but normal in RTT, although there are likely regional changes in GABA receptor distribution. GABAergic anomalies occur in both disorders, each featuring an autism spectrum phenotype. What effect the SSADHD biochemical anomalies (elevated GABA, GH B) might play in the neurodevelopmental/epileptic phenotype of our patient is currently unknown. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2019 Category: Genetics & Stem Cells Authors: Madalyn Brown, Paula Ashcraft, Erland Arning, Teodoro Bottiglieri, William McClintock, Frank Giancola, David Lieberman, Natalie S. Hauser, Rebecca Miller, Jean ‐Baptiste Roullet, Phillip Pearl, K. Michael Gibson Tags: ORIGINAL ARTICLE Source Type: research

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I
ConclusionThe sequence variant may be a disease ‐causing factor resulting in abnormal type I procollagen synthesis and leading to OI type I. This finding has significant implications for genetic counseling and clinical monitoring of high‐risk families and may be helpful for understanding pathogenic mechanism of OI and developing therapies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2019 Category: Genetics & Stem Cells Authors: Mingyuan Wang, Yi Guo, Pengfei Rong, Hongbo Xu, Lina Gong, Hao Deng, Lamei Yuan Tags: ORIGINAL ARTICLE Source Type: research

CDK6 3'UTR polymorphisms alter the susceptibility to cervical cancer among Uyghur females
CDK6 is involved in the pathogenesis of cervical cancer. CDK6 variants reduce the susceptibility to cervical cancer in Uyghur females. Rs8179, rs42032 and rs42033 are new markers for cervical cancer early assessment. AbstractAimsCyclin dependent kinase 6 (CDK6) plays a crucial role in malignant tumor whereas less is reported in cervical cancer development. The aim of this study was to evaluate the effects ofCDK6 3' untranslated region (3'UTR) polymorphisms on cervical cancer susceptibility among Uyghur females.MethodsThe genotypes of the sixCDK6 variants (rs8179, rs42032, rs42033, rs42034, rs42035, and rs42038) were identi...
Source: Molecular Genetics & Genomic Medicine - March 4, 2019 Category: Genetics & Stem Cells Authors: Kailibinuer Aierken, Zhihong Dong, Tangnuer Abulimiti, Yuanyuan Zhang, Guzhalinuer Abuduxikuer, Gulixian Tuerxun, Guligeina Abudurexiti, Aziguli Maimaitiaishan, Patiman Mijiti, Guzhalinuer Abulizi Tags: ORIGINAL ARTICLE Source Type: research

Genetics of IL6 polymorphisms: Case –control study of the risk of endometrial cancer
ConclusionThis study demonstrated thatIL6 gene polymorphisms are significantly associated with increased EC susceptibility in Hainan Chinese Han women. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 3, 2019 Category: Genetics & Stem Cells Authors: Junhong Cai, Kaiying Cui, Fanglin Niu, Tianbo Jin, Sizhe Huang, Ying Zhang, Shan Bao Tags: ORIGINAL ARTICLE Source Type: research

Genotype ‐phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil
ConclusionThe high discordance rate between genotype ‐predicted and observed metabolic phenotypes in this study seems to be due partially to the high frequency of the so‐called “moderate” common mutations, p.R261Q, p.V388M, and p.I65T, which are reported to be associated to erratic or more severe than expected metabolic phenotypes. Although ou r results of BH4 estimated responsiveness must be regarded as tentative, it should be emphasized that genotyping and genotype ‐phenotype association studies are important in selecting patients to be offered a BH4 overload test, especially in low ‐resource settings...
Source: Molecular Genetics & Genomic Medicine - March 3, 2019 Category: Genetics & Stem Cells Authors: Eduardo Vieira Neto, Francisco Laranjeira, Dulce Quelhas, Isaura Ribeiro, Alexandre Seabra, Nicole Mineiro, Lilian M. Carvalho, L úcia Lacerda, Márcia G. Ribeiro Tags: ORIGINAL ARTICLE Source Type: research

Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps
ConclusionThis study confirms the low frequency of causal variants in these genes in the predisposition for multiple colorectal polyps, and also establishes that these genes are a rare cause of the disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 2, 2019 Category: Genetics & Stem Cells Authors: Fadwa A. Elsayed, Carli M. J. Tops, Maartje Nielsen, Dina Ruano, Hans F. A. Vasen, Hans Morreau, Frederik J. Hes, Tom van Wezel Tags: ORIGINAL ARTICLE Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 7, Issue 2, February 2019. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Genetics and genomic medicine in Iran
Attention has been focused on the field of genetics and genomics in Iran in recent years and some efforts have been enforced and implemented. However, they are totally not adequate, considering the advances in medical genetics and genomics in the past two decades around the world. Overall, considering the lack of medical genetics residency programs in the Iranian health education system, big demand due to high consanguinity and intraethnic marriages, there is a lag in genetic services and necessity to an immediate response to fill this big gap in Iran. As clarified in the National constitution fundamental law and re ‐emp...
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Authors: Babak Behnam, Maryam Zakeri Tags: GENETICS AND GENOMIC MEDICINE AROUND THE WORLD Source Type: research

Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia
ConclusionThe result will contribute in further understanding the genotype ‐phenotype relationship of CAH patients and to guide better treatment and management of the affected. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Authors: Dung V. Chi, Thinh H. Tran, Duc H. Nguyen, Long H. Luong, Phuong T. Le, Minh H. Ta, Huong T. T. Ngo, Mai P. Nguyen, Tuan P. Le ‐Anh, Dat P. Nguyen, The‐Hung Bui, Van T. Ta, Van K. Tran Tags: ORIGINAL ARTICLE Source Type: research

Effects of MTNR1B genetic variants on the risk of type 2 diabetes mellitus: A meta ‐analysis
ConclusionsOur findings indicated thatMTNR1B rs10830963 variant might serve as a genetic biomarker of T2DM, especially in South Asians. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Authors: Ling ‐long Shen, Yin Jin Tags: ORIGINAL ARTICLE Source Type: research

The protective impact of betaine on the tissue structure and renal function in isoproterenol ‐induced myocardial infarction in rat
ConclusionAccording to our results, betaine has protective effects on isoprenaline ‐induced renal failure via a decrease in TNF‐α level and nitric oxide synthase. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Authors: Mohammad Maram Ghartavol, Shiva Gholizadeh ‐Ghaleh Aziz, Ghader Babaei, Gholam Hossein Farjah, Mohammad Hassan Khadem Ansari Tags: ORIGINAL ARTICLE Source Type: research

Exome sequencing in 51 early onset non ‐familial CRC cases
without family history of the disease has identified one pathogenic variant inPTEN in a patient with a hereditary hamartoma tumor syndrome and one pathogenic variant inPMS2. We propose three heterozygous candidate missense variants in known cancer susceptibility genes (BMPR1A, BRIP1, andSRC), three truncating variants in possibly novel cancer genes (CLSPN, SEC24B, SSH2) and four candidate missense variants inACACA, NR2C2, INPP4A, andDIDO1. We also identify five possible autosomal recessive candidate genes:ATP10B, PKHD1, UGGT2, MYH13, TFF3. AbstractBackgroundColorectal cancer (CRC) cases with an age of onset
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Authors: Jessada Thutkawkorapin, Annika Lindblom, Emma Tham Tags: ORIGINAL ARTICLE Source Type: research

Analysis of the Prader –Willi syndrome imprinting center using droplet digital PCR and next‐generation whole‐exome sequencing
ConclusionDroplet digital polymerase chain reaction is a cost ‐effective method that can be used to confirm the presence of microdeletions in PWS with impact on genetic counseling and recurrence risks for families. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 21, 2019 Category: Genetics & Stem Cells Authors: Samantha N. Hartin, Waheeda A. Hossain, David Francis, David E. Godler, Sangjucta Barkataki, Merlin G. Butler Tags: ORIGINAL ARTICLE Source Type: research

The promising novel biomarkers and candidate small molecule drugs in kidney renal clear cell carcinoma: Evidence from bioinformatics analysis of high ‐throughput data
ConclusionsThis study first uncovered six key genes in KIRC which contributed to improving our understanding of the molecular mechanisms of KIRC pathogenesis.ACAA1, ACADSB, ALDH6A1, AUH, HADH,and PCCA could serve as the promising novel biomarkers for KIRC diagnosis, prognosis, and treatment. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 21, 2019 Category: Genetics & Stem Cells Authors: Bo Zhang, Qiong Wu, Ziheng Wang, Ran Xu, Xinyi Hu, Yidan Sun, Qiuhong Wang, Fei Ju, Shiqi Ren, Chenlin Zhang, Lin Qin, Qianqian Ma, You Lang Zhou Tags: ORIGINAL ARTICLE Source Type: research

Targeted next generation sequencing identified novel loss ‐of‐function mutations in MERTK gene in Chinese patients with retinitis pigmentosa
ConclusionOur present study also demonstrates the significance of targeted next generation sequencing in determining the genetic basis of RP. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 20, 2019 Category: Genetics & Stem Cells Authors: Song Liu, Jian Gang Bi, Yunlong Hu, Donge Tang, Bo Li, Peng Zhu, Wujian Peng, Dong Du, Huiyan He, Jun Zeng, Yong Dai Tags: ORIGINAL ARTICLE Source Type: research

Cover
The cover image based on Original ArticleDMD Open ‐access Variant Explorer (DOVE): A scalable, open‐access, web‐based tool to aid in clinical interpretation of genetic variants in the DMD gene by Mitchell Bailey and Nicole Miller, DOI:10.1002/mgg3.510. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 20, 2019 Category: Genetics & Stem Cells Authors: Mitchell Bailey, Nicole Miller Tags: COVER Source Type: research

Cover
The cover image based on CommentaryAn International Summit in Human Genetics and Genomics: Empowering Clinical Practice and Research in Developing Countries by Manjit Kaur, M.S., M.B.A., et al., DOI:10.1002/mgg3.599. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 20, 2019 Category: Genetics & Stem Cells Authors: Manjit Kaur, Donald W. Hadley, Maximilian Muenke, P. Suzanne Hart Tags: COVER Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 7, Issue 1, January 2019. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 20, 2019 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countries
To help fill the knowledge gap in human genetics and genomics, an International Summit (IS) in Human Genetics and Genomics was conceived and organized by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) as a 5 ‐year initiative, from 2016 to 2020. In its first 3 years, 71 professionals from 34 countries received training. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 20, 2019 Category: Genetics & Stem Cells Authors: Manjit Kaur, Donald W. Hadley, Maximilian Muenke, P. Suzanne Hart Tags: INVITED COMMENTARY Source Type: research

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome
ConclusionsOur study provides the mutation and phenotypic spectrum of NS from a new population group. The molecular testing yield of 76% is similar to other studies and shows that the targeted panel approach is useful for identifying genetic mutations in NS which has multiple causative genes. The molecular basis for the phenotypes of the remaining patients remains unknown and would need to be uncovered via sequencing of additional genes or other investigative methods. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 19, 2019 Category: Genetics & Stem Cells Authors: Ai ‐Ling Koh, Ee‐Shien Tan, Maggie S. Brett, Angeline H. M. Lai, Saumya Shekhar Jamuar, Ivy Ng, Ene‐Choo Tan Tags: ORIGINAL ARTICLE Source Type: research

Correlation between PLCE1 rs2274223 variant and digestive tract cancer: A meta ‐analysis
This is so far the most comprehensive evidence ‐based meta‐analysis on PLCE1 rs2274223 variant and digestive tract cancer. Our findings indicated that the PLCE1 rs2274223 variant might serve as a potential biological marker of esophageal and gastric cancer in East Asians. Future investigations are needed to explore potential roles of PLCE1 r s2274223 variant in the development of other types of cancer. AbstractBackgroundThe relationship between phospholipase C ε‐1 (PLCE1) rs2274223 variant and digestive tract cancer remains inconclusive despite extensive investigations. Therefore, we performed this meta ‐an...
Source: Molecular Genetics & Genomic Medicine - February 19, 2019 Category: Genetics & Stem Cells Authors: Qingfa Chen, Yu Wang, Yan Xu, Hai Lin, Fangxi Xue, Xingtian Chen Tags: ORIGINAL ARTICLE Source Type: research

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report
ConclusionThis is the first case of a compound heterozygote patient with a missense mutation involving NM_000486.5:exon2:c.374C>T (p.Thr125Met) and a gross deletion of at least exons 2, 3, and partially 4 on theAQP2 to present with a severe NDI phenotype. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 19, 2019 Category: Genetics & Stem Cells Authors: Ram ón Peces, Rocío Mena, Carlos Peces, Fernando Santos‐Simarro, Luis Fernández, Sara Afonso, Pablo Lapunzina, Rafael Selgas, Julián Nevado Tags: ORIGINAL ARTICLE Source Type: research

Effect of the thymine ‐DNA glycosylase rs4135050 variant on Saudi smoker population
ConclusionDepending on the gender and age of patients, TDG rs4135050 may provide a novel biomarker for the early diagnosis and prevention of several diseases caused by cigarette smoking. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 18, 2019 Category: Genetics & Stem Cells Authors: Mikhlid Almutairi, Abdullah Mohammad Alhadeq, Rafa Almeer, Mohammed Almutairi, Mohammed Alzahrani, Abdelhabib Semlali Tags: ORIGINAL ARTICLE Source Type: research

Pilot study of a novel multi ‐functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single‐gene disorder screening
ConclusionFor the first time, we showed that it is possible to use just a single NIPT test to detect three distinct types of fetus disorder and laid a foundation for developing a cheaper, faster, and multi ‐functional NIPT method in the future. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 14, 2019 Category: Genetics & Stem Cells Authors: Yuqin Luo, Bei Jia, Kai Yan, Siping Liu, Xiaojie Song, Mingfa Chen, Fan Jin, Yang Du, Juan Wang, Yan Hong, Sha Cao, Dawei Li, Minyue Dong Tags: ORIGINAL ARTICLE Source Type: research

Molecular diagnosis of somatic overgrowth conditions: A single ‐center experience
ConclusionNext ‐generation sequencing has enabled sensitive detection of somatic pathogenic variants associated with overgrowth conditions. However, as the pathogenic variant allele frequency varies by tissue type within an individual, submission of affected tissue(s) greatly increases the chances of a molecular diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 13, 2019 Category: Genetics & Stem Cells Authors: Emilie Lalonde, Jessica Ebrahimzadeh, Keith Rafferty, Jennifer Richards ‐Yutz, Richard Grant, Erik Toorens, Jennifer Marie Rosado, Erica Schindewolf, Tapan Ganguly, Jennifer M. Kalish, Matthew A. Deardorff, Arupa Ganguly Tags: ORIGINAL ARTICLE Source Type: research

Integrated bioinformatics analysis of key genes involved in progress of colon cancer
ConclusionWe found thatSPP1,VIP,COL11A1,CA2,ADAM12,INHBA could provide great significant prognostic value for colon cancer. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 11, 2019 Category: Genetics & Stem Cells Authors: Haojie Yang, Jiong Wu, Jingjing Zhang, Zhigang Yang, Wei Jin, Ying Li, Lei Jin, Lu Yin, Hua Liu, Zhenyi Wang Tags: ORIGINAL ARTICLE Source Type: research

Methylation of HIF3A promoter CpG islands contributes to insulin resistance in gestational diabetes mellitus
ConclusionOur findings demonstrate that the expression level ofHIF3A, but notHIF1A orHIF2A, is downregulated in GDM patients. The methylation status ofHIF3A promoter region is highly correlated with GDM, which could be a novel therapeutic target for GDM treatment. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 11, 2019 Category: Genetics & Stem Cells Authors: Yinghong Zhang, Yangyang Chen, Hongmei Qu, Yuanli Wang Tags: ORIGINAL ARTICLE Source Type: research

Icariin inhibits chondrocyte apoptosis and angiogenesis by regulating the TDP ‐43 signaling pathway
This study focused on the mechanisms where icariin inhibited chondrocyte apoptosis and angiogenesis by regulating the TDP ‐43 signaling pathway.MethodsA rat osteoarthritis (OA) model was established by collagenase injection. Histological examination of the articular cartilage and synovial tissue was performed 6  weeks after operation. Cartilage cell line overexpressing TDP‐43 and mesenchymal stem cell line (TDP43‐MSCs) of the ratTDP43 gene were established.ResultsIn OA rats transplanted with TDP43 ‐mMSCs, TDP43 was highly expressed in chondrocytes (TDP43‐HC), while TDP43 expression was low in HC and MSCs‐HC (p  
Source: Molecular Genetics & Genomic Medicine - February 7, 2019 Category: Genetics & Stem Cells Authors: He Huang, Zhao ‐Fei Zhang, Feng‐Wei Qin, Wang Tang, Dong‐Hua Liu, Pei‐Yu Wu, Feng Jiao Tags: ORIGINAL ARTICLE Source Type: research

Exome sequencing in families with chronic central serous chorioretinopathy
ConclusionWe identified potential candidate genes for familial CSC and managed to exclude Mendelian inheritance of variants in one or a limited number of genes. Instead, familial CSC may be a heterogeneous Mendelian disease caused by variants in many different genes, or alternatively CSC may represent a complex disease to which both environmental factors and genetics contribute. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 6, 2019 Category: Genetics & Stem Cells Authors: Rosa L. Schellevis, Elon H. C. van Dijk, Myrte B. Breukink, Jan E. E. Keunen, Gijs W. E. Santen, Carel B. Hoyng, Eiko K. de Jong, Camiel J. F. Boon, Anneke I. den Hollander Tags: ORIGINAL ARTICLE Source Type: research

Dysregulations of sonic hedgehog signaling in MED12 ‐related X‐linked intellectual disability disorders
ConclusionsThese results support a critical role of MED12 in regulating Gli3 ‐dependent SHH signaling and in developing ID and related congenital malformations in XLID syndromes. Differences in the expression profile of SHH‐signaling genes potentially contribute to variability in clinical phenotypes in patients withMED12‐related XLID disorders. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 6, 2019 Category: Genetics & Stem Cells Authors: Siddharth Srivastava, Tejasvi Niranjan, Melanie M. May, Patrick Tarpey, William Allen, Anna Hackett, Pierre ‐Simon Jouk, Lucy Raymond, Slyvain Briault, Cindy Skinner, Annick Toutain, Jozef Gecz, William Heath, Roger E. Stevenson, Charles E Tags: ORIGINAL ARTICLE Source Type: research

Association between IL ‐4 tagging single nucleotide polymorphisms and the risk of lung cancer in China
ConclusionsThese data indicated potential associations betweenIL ‐4 polymorphisms and lung cancer susceptibility. That may help to improve the understanding of the relationship between inflammation and lung cancer in the future. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 6, 2019 Category: Genetics & Stem Cells Authors: Nan Tan, Jiangjiang Song, Mengdan Yan, Jiamin Wu, Yao Sun, Zichao Xiong, Yipeng Ding Tags: ORIGINAL ARTICLE Source Type: research

Two Chinese Xia ‐Gibbs syndrome patients with partial growth hormone deficiency
ConclusionThis is the first report of Xia ‐Gibbs syndrome patients to be treated with growth hormone. Review of previously reported Xia‐Gibbs syndrome patient indicated that short stature is a frequent feature of this condition, but its underlying cause needs to be further investigated. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 6, 2019 Category: Genetics & Stem Cells Authors: Xinran Cheng, Fang Tang, Xuyun Hu, Hongduo Li, Mengting Li, Yiyong Fu, Li Yan, Zhonghui Li, Peng Gou, Na Su, Chunzhu Gong, Weilan He, Rong Xiang, Dongmei Bu, Yiping Shen Tags: CLINICAL REPORT Source Type: research

Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids
ConclusionOur data indicate a mutation ‐related CSF1R gain‐of‐function, accompanied by an altered composition of the peripheral innate immune cells in our patient with HDLS. Since pharmacological targeting of CSF1R with tyrosine kinase inhibitors prevents disease progression in mouse models of neurodegenerative disorders, a potenti al pharmacological benefit of CSF1R inhibition remains to be elucidated for patients with HDLS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 6, 2019 Category: Genetics & Stem Cells Authors: Torsten Kraya, Dagmar Quandt, Thorsten Pfirrmann, Andrea Kindermann, Leonie Lampe, Matthias L. Schroeter, J ürgen Kohlhase, Dietrich Stoevesandt, Katrin Hoffmann, Pablo Villavicencio‐Lorini Tags: ORIGINAL ARTICLE Source Type: research

Genetics and genomic medicine in Argentina
In this letter, we want to add information to the paper “Genetics and genomic medicine in Argentina” that we considered it was lacking. Argentina is a big country with inequalities in the access to public health care, especially in medical genetics and genomics. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 5, 2019 Category: Genetics & Stem Cells Authors: Javier Cotignola, Sandra Rozental, Noem í Buzzalino, Liliana Dain Tags: LETTER TO THE EDITOR Source Type: research

Identifying pathogenic variants in the Follistatin ‐like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders
In total 69 genetically unresolved patients were selected with the following phenotypes: campomelic dysplasia (12), small patella syndrome (2), BILU (1) and congenital heart disease patients (54), were screened for copy number variation and mutations in the secreted glycoprotein Follistatin ‐like 1. No variants were found in the coding region. Eight intronic variants were identified that differed significantly in their minor allele frequency compared to controls, of which variant rs2272515 correlated significantly (p 
Source: Molecular Genetics & Genomic Medicine - February 5, 2019 Category: Genetics & Stem Cells Authors: Stuti Prakash, Andrea Mattiotti, Marc Sylva, Barbara J. M. Mulder, Alex V. Postma, Maurice J. B. van den Hoff Tags: ORIGINAL ARTICLE Source Type: research

Upregulation of miR ‐200a and miR‐204 in MPP+‐treated differentiated PC12 cells as a model of Parkinson’s disease
ConclusionThe first novel finding of the current study is altered expression of miR ‐200a and miR‐204 in differentiated PC12 cells in response to MPP+, suggesting that deregulation of them participate in MPP+ neurotoxicity mechanisms, possibly via affecting the expression ofSirt1 andBCL2 as potential targets. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 3, 2019 Category: Genetics & Stem Cells Authors: Maryam Talepoor Ardakani, Mahsa Rostamian Delavar, Masoud Baghi, Mohammad Hossein Nasr ‐Esfahani, Abbas Kiani‐Esfahani, Kamran Ghaedi Tags: ORIGINAL ARTICLE Source Type: research

Association between polymorphisms in CXCR2 gene and preeclampsia
Previous study has demonstrated that the decreased CXCR2 in preeclamptic placentas may contribute to the development of preeclampsia. The role of SNPs of CXCR2 gene in the pathogenesis of preeclampsia remains largely unexplored. Our study suggests a genetic association between rs1126579 polymorphism in CXCR2 gene and increased risk of preeclampsia. These data provide a new clue for future investigation. AbstractBackgroundPreeclampsia is a serious pregnancy ‐specific syndrome with incompletely understood pathogenesis. Previous study has demonstrated that the decreased CXCR2 in preeclamptic placentas may contribute to the ...
Source: Molecular Genetics & Genomic Medicine - February 3, 2019 Category: Genetics & Stem Cells Authors: Hongqin Chen, Yanping Zhang, Li Dai, Yaping Song, Yanyun Wang, Bin Zhou, Rong Zhou Tags: ORIGINAL ARTICLE Source Type: research

A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein
ConclusionThe mutation did not result in loss of mRNA exons; rather, a 6 ‐nucleotide (two‐codon) insertion, where the latter was a stop codon, leading to early termination of LAMP2 protein translation. The resulting truncated protein lacks an important transmembrane domain, which will impair lysosome/autophagosome fusion, damage autophagy function, and result in the clinical manifestations of Danon disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 3, 2019 Category: Genetics & Stem Cells Authors: Nianwei Zhou, Jie Cui, Weipeng Zhao, Yingying Jiang, Wenqing Zhu, Lu Tang, Xuejie Li, Minmin Sun, Cuizhen Pan, Xianhong Shu Tags: ORIGINAL ARTICLE Source Type: research

Canadian genetic healthcare professionals ’ attitudes towards discussing private pay options with patients
ConclusionWith the increasing availability of genomic technologies, these findings inform how we practice and demonstrate the need for policy in this area. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 2, 2019 Category: Genetics & Stem Cells Authors: Vanessa Di Gioacchino, Sylvie Langlois, Alison M. Elliott Tags: ORIGINAL ARTICLE Source Type: research

AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy
ConclusionThe characteristic MRI abnormalities and clinical symptoms described here may help to distinguishAARS2‐related leukoencephalopathy from other adult‐onset leukoencephalopathies. The combination of encephalopathy and myopathy strongly suggest thatAARS2‐related leukoencephalopathy is a new variant of mitochondrial encephalomyopathy. The response to coenzyme complex will shed light on future therapy investigation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 31, 2019 Category: Genetics & Stem Cells Authors: Yi Tang, Qi Qin, Yi Xing, Dongmei Guo, Li Di, Jianping Jia Tags: ORIGINAL ARTICLE Source Type: research

Prenatal cell ‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory
ConclusionThis cfDNA prenatal screening assay provides highly accurate discrimination between affected and unaffected pregnancies among a population of pregnant women at average and high risk for fetal genetic abnormalities. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 31, 2019 Category: Genetics & Stem Cells Authors: Carrie Guy, Farnoosh Haji ‐Sheikhi, Charles M. Rowland, Ben Anderson, Renius Owen, Felicitas L. Lacbawan, Damian P. Alagia Tags: ORIGINAL ARTICLE Source Type: research

The protective role of rs56103835 against breast cancer onset in the Iranian population
ConclusionThe C allele is likely to inhibit the expression ofBRCA2 by interfering with the processing of this pre ‐miRNA and increasing the expression of target genes such asBRCA2. Because one of the early onset genes in breast cancer is theBRCA2, the presence of any of C and T alleles can have a significant effect on the incidence of the disease. To further confirm this data, however, more molecular studies are needed. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 31, 2019 Category: Genetics & Stem Cells Authors: Negin Naderi, Maryam Peymani, Kamran Ghaedi Tags: ORIGINAL ARTICLE Source Type: research

A multidisciplinary approach to the clinical management of Prader –Willi syndrome
ConclusionEstablishment of clinics motivates collaboration to provide evidence ‐based new standards of care, increases the knowledge base including through randomized controlled trials, and offers an additional resource for the community. They have a role in global telemedicine, including to rural areas with few resources, and create opportunities for clinical work to inform basic and translational research. As a care team, we are currently charged with understanding the molecular basis of PWS beyond the known genetic cause; developing appropriate clinical outcome measures and biomarkers; bringing new therapies to change...
Source: Molecular Genetics & Genomic Medicine - January 29, 2019 Category: Genetics & Stem Cells Authors: Jessica Duis, Pieter J. van Wattum, Ann Scheimann, Parisa Salehi, Elly Brokamp, Laura Fairbrother, Anna Childers, Althea Robinson Shelton, Nathan C. Bingham, Ashley H. Shoemaker, Jennifer L. Miller Tags: REVIEW ARTICLE Source Type: research