IL ‐7R gene polymorphisms among patients with rheumatoid arthritis: A case–control study
We explored the associations between interleukin ‐7 receptor (IL ‐7R) gene polymorphisms and Rheumatoid arthritis (RA) susceptibility. Our results suggested rs969129 and rs6451231 (IL ‐7R) were associated with increased risk of RA in the Chinese Han population. AbstractBackgroundRheumatoid arthritis (RA) is the most common inflammatory disease which refers to bony erosions and joint destruction largely caused by genetic factors. Our study aimed to explore whether interleukin ‐7 receptor (IL ‐7R) gene polymorphisms influenced RA risk in the Han Chinese population.MethodsFive single nucleotide polymorphisms (SNPs) ...
Source: Molecular Genetics & Genomic Medicine - May 26, 2019 Category: Genetics & Stem Cells Authors: Mei Bai, Xue He, Yongjun He, Dongya Yuan, Tianbo Jin, Li Wang Tags: ORIGINAL ARTICLE Source Type: research

Role of genomics literacy in reducing the burden of common genetic diseases in Africa
ConclusionWe propose a number of approaches that if adopted will significantly increase the genomic literacy and reduce the burden of genetic diseases in Africa. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 26, 2019 Category: Genetics & Stem Cells Authors: Gerald Mboowa, Ivan Sserwadda Tags: REVIEW ARTICLE Source Type: research

VCF ‐Server: A web‐based visualization tool for high‐throughput variant data mining and management
ConclusionsWith an easy ‐to‐use graphical interface, VCF‐Server allows researchers with little bioinformatics background to explore and mine mutation data, which may broaden the application of NGS technology in clinics and research. The tool is freely available for use athttps://www.diseasegps.org/VCF-Server?lan = eng. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 24, 2019 Category: Genetics & Stem Cells Authors: Jianping Jiang, Jianlei Gu, Tingting Zhao, Hui Lu Tags: ORIGINAL ARTICLE Source Type: research

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants
ConclusionWe thus present the GPI biosynthesis database and review the molecular genetics of published variants in GPI ‐anchor biosynthesis genes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 24, 2019 Category: Genetics & Stem Cells Authors: Nissan Vida Baratang, Daniel Alexander Jimenez Cruz, Norbert Fonya Ajeawung, Thi Tuyet Mai Nguyen, Guillermo Pacheco ‐Cuéllar, Philippe M. Campeau Tags: ORIGINAL ARTICLE Source Type: research

Precise CCM1 gene correction and inactivation in patient ‐derived endothelial cells: Modeling Knudson's two‐hit hypothesis in vitro
ConclusionWe here demonstrate that a non ‐viral CRISPR/Cas9 approach can not only be used for gene knockout but also for precise gene correction in hard‐to‐transfect endothelial cells (ECs). Comparing patient‐derived isogenicCCM1+/+,CCM1+/ −, andCCM1−/− ECs, we show that the inactivation of the second allele results in clonal evolution of ECs lacking CCM1 which likely reflects the initiation phase of CCM genesis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 23, 2019 Category: Genetics & Stem Cells Authors: Stefanie Spiegler, Matthias Rath, Christiane D. Much, Barbara S. Sendtner, Ute Felbor Tags: METHOD Source Type: research

Association study between matrix metalloproteinase ‐3 gene (MMP3) polymorphisms and ankylosing spondylitis susceptibility
ConclusionThe present study suggests that MMP3 rs522616 polymorphism is associated with AS susceptibility and MMP3 might be a potential diagnostic biomarker for AS. Further independent studies with larger cohorts are warranted to validate our findings in different populations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 23, 2019 Category: Genetics & Stem Cells Authors: Yong Zhu, Shunan Li, Zhi Huang, Wenhua Xing, Feng Li, Yifeng Da, Jianmin Xue, Manglai Li, Ke Sun, Haiyu Jia, Xuejun Yang Tags: ORIGINAL ARTICLE Source Type: research

Associations between polymorphisms of the ACYP2 gene and Liver cancer risk: A case ‐control study and meta‐analysis
ConclusionBased on this research, we surmised thatACYP2 gene may be involved in the occurrence of liver cancer in Chinese populations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 23, 2019 Category: Genetics & Stem Cells Authors: Wenhui Zhao, Xu Liu, Zhendong Yu, Zichao Xiong, Jiamin Wu, Yao Sun, Fanglin Niu, Jikui Liu, Tianbo Jin Tags: ORIGINAL ARTICLE Source Type: research

The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3
ConclusionThese findings collectively suggested that initial symptoms influenced phenotypes in SCA3 and that neurodegeneration in different parts of brain may induce different disease severity in SCA3. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 23, 2019 Category: Genetics & Stem Cells Authors: Hao ‐Ling Xu, Qiu‐Ni Su, Xian‐Jin Shang, Arif Sikandar, Min‐Ting Lin, Ning Wang, Hong Lin, Shi‐Rui Gan Tags: ORIGINAL ARTICLE Source Type: research

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro ‐oculo‐facio‐skeletal syndrome
ConclusionThe co ‐occurrence of clinical and overlapping genetic heterogeneous entities should be taken into consideration for better molecular and genetic counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 23, 2019 Category: Genetics & Stem Cells Authors: Abir Ben Haj Ali, Ahlem Amouri, Marwa Sayeb, Saloua Makni, Wajih Hammami, Chokri Naouali, Hamza Dallali, Lilia Romdhane, Anu Bashamboo, Kenneth McElreavey, Sonia Abdelhak, Olfa Messaoud Tags: ORIGINAL ARTICLE Source Type: research

Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family
ConclusionsOur study identified three clinical pathologicTERT mutations and implied that telomere erosion might be accumulated through successive generations, contributing to the severity of DC in the younger generation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 22, 2019 Category: Genetics & Stem Cells Authors: Caixia He, Shuang Jing, Congling Dai, Chaofeng Tu, Zhenhua Tan, Juan Du, Guang ‐Xiu Lu, Ge Lin, Sicong Zeng Tags: ORIGINAL ARTICLE Source Type: research

Effect quantification and value prediction of factors in noninvasive detection for specific fetal copy number variants by semiconductor sequencing
ConclusionThe quantification of effect and value of parameters as well as the method used in this study can benefit the establishment of quality standards for CNVs detection and interpretation of CNVs detection results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 21, 2019 Category: Genetics & Stem Cells Authors: Chunhua Zhang, Bo Liang, Longwei Qiao, Liming Xuan, Hong Li, Quanze He, Xiaojuan Wu, Jiafeng Lu, Bin Yu, Ting Wang Tags: ORIGINAL ARTICLE Source Type: research

Clinical and molecular characterization of an 18 ‐month‐old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review
ConclusionOur findings expand both the knowledge of the clinical phenotype and the allelic repertoire of ARCL1C. The comparison of the patient's features with those of the other patients reported up to now offers future perspectives for clinical research in this field. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 21, 2019 Category: Genetics & Stem Cells Authors: Marco Ritelli, Francisco Cammarata ‐Scalisi, Valeria Cinquina, Marina Colombi Tags: ORIGINAL ARTICLE Source Type: research

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood ‐onset beta‐mannosidosis
ConclusionOur findings suggest that hematopoietic cell transplant can correct the biochemical defect in β‐mannosidosis, although preservation of the neurocognitive trajectory may be a challenge. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 21, 2019 Category: Genetics & Stem Cells Authors: Troy C. Lund, Weston P. Miller, Julie B. Eisengart, Katrina Simmons, Laura Pollard, Deborah L. Renaud, David A. Wenger, Marc C. Patterson, Paul J Orchard Tags: ORIGINAL ARTICLE Source Type: research

Exome sequencing revealed a novel loss ‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly
ConclusionTo the best of our knowledge, the present study reports on the first familial case of nonsyndromic postaxial polydactyly due to theGLI3 variant in Pakistani population. Our study also demonstrated the important role of GLI3 in causing nonsyndromic postaxial polydactyly. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 21, 2019 Category: Genetics & Stem Cells Authors: Muhammad Umair, Naveed Wasif, Alia M. Albalawi, Khushnooda Ramzan, Majid Alfadhel, Wasim Ahmad, Sulman Basit Tags: ORIGINAL ARTICLE Source Type: research

A comparison of genomic laboratory reports and observations that may enhance their clinical utility for providers and patients
ConclusionsReporting practices for most report elements varied widely; however, readability and quality did not differ significantly between laboratory types. Management and treatment information, even for well ‐known conditions, are rarely included. Effectively communicating test results may be improved if certain reporting elements are incorporated. Recommendations to improve laboratory reports are provided. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 21, 2019 Category: Genetics & Stem Cells Authors: Kyle Walter Davis, Lori Hamby Erby, Katie Fiallos, Megan Martin, Edward Robert Wassman Tags: ORIGINAL ARTICLE Source Type: research

Influence of glutathione S ‐transferases (GSTM1, GSTT1, and GSTP1) genetic polymorphisms and smoking on susceptibility risk of chronic myeloid leukemia and treatment response
ConclusionOur study suggests the influence of GSTM1 and GSTP1 polymorphisms on CML risk and treatment response. The interaction between GSTs polymorphisms and smoking plays a significant role on CML susceptibility. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 20, 2019 Category: Genetics & Stem Cells Authors: Golale Rostami, Dlnya Assad, Fatemeh Ghadyani, Mohammad Hamid, Amirhossien Karami, Hasan Jalaeikhoo, Ramezan Ali Kalahroodi Tags: ORIGINAL ARTICLE Source Type: research

Association of glypican ‐6 polymorphisms with lumbar disk herniation risk in the Han Chinese population
ConclusionsFor the first time, we suggest that rs4773724 and rs1008993 inGPC6 were considered as a protective factor and a risk factor for LDH in Han Chinese population, respectively. These results provide new ideas for the treatment and prevention of LDH in Han Chinese population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 20, 2019 Category: Genetics & Stem Cells Authors: Baoyang Hu, Wenhua Xing, Feng Li, Zhi Huang, Wenkai Zheng, Demin Ji, Fanglin Niu, Yong Zhu, Xuejun Yang Tags: ORIGINAL ARTICLE Source Type: research

Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy
ConclusionThis study aims to elucidate how a collection of variant genotypes could potentially impact neural development resulting in a unique phenotype including ASD and epilepsy. Each gene's contribution to neural development is assessed, and the interplay of these genotypes is discussed. The results highlight the utility of exome sequencing in conjunction with pharmacogenomics screening when evaluating possible causes of and therapeutic treatments for ASD ‐related symptoms. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 20, 2019 Category: Genetics & Stem Cells Authors: Kristy Jay, Amit Mitra, Taylor Harding, David Matthes, Brian Van Ness Tags: ORIGINAL ARTICLE Source Type: research

The human amniotic fluid mesenchymal stem cells therapy on, SKOV3, ovarian cancer cell line
ConclusionsOur findings showed that hAFMSCs have natural tumor tropism, and can release soluble factors in a cell culture, which cause an efficient anticancer effect. Thus, we can use hAFMSCs for complete anticancer therapy on SKOV3 cell line at cell culture condition and possibly in vivo in the near future. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 20, 2019 Category: Genetics & Stem Cells Authors: Shiva Gholizadeh ‐Ghaleh Aziz, Zahra Fardyazar, Maryam Pashaiasl Tags: ORIGINAL ARTICLE Source Type: research

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy
ConclusionThe marked reduction of aconitase activity in patient fibroblasts was due to the combination of decreased aconitase 2 amount and activity due to mutations. Reduced aconitase activity directly suppresses the TCA cycle, resulting in mitochondrial dysfunction, which may lead to symptoms similar to those observed in mitochondrial diseases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 20, 2019 Category: Genetics & Stem Cells Authors: Masahide Fukada, Keitaro Yamada, Shima Eda, Ken Inoue, Chihiro Ohba, Naomichi Matsumoto, Hirotomo Saitsu, Atsuo Nakayama Tags: ORIGINAL ARTICLE Source Type: research

Genetics and genomic medicine in Sri Lanka
This article aims to provide an overview of the genetics and genomic medicine services in Sri Lanka from its early developments to the current state. AbstractThe completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics ‐based translational medicine mainly in the developed world. However, the development of such advances has been hampered in most parts of the developing world due to scarcity of resources and trained personnel. Genetics and genomic medicine are currently in the process of being integrated into the Sri ...
Source: Molecular Genetics & Genomic Medicine - May 20, 2019 Category: Genetics & Stem Cells Authors: Nirmala D. Sirisena, Vajira H. W. Dissanayake Tags: GENETICS AND GENOMIC MEDICINE AROUND THE WORLD Source Type: research

Diagnostic performance of circular RNAs in human cancers: A systematic review and meta ‐analysis
ConclusionThis study confirmed that circRNAs may be candidate biomarkers for cancer diagnosis. In particular, diagnosis of combined circRNAs will be a new alternative applied to clinical research and practice for cancer. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 20, 2019 Category: Genetics & Stem Cells Authors: Juan Li, Hang Li, Xiaoting Lv, Zitai Yang, Min Gao, Yanhong Bi, Ziwei Zhang, Shengli Wang, Zhigang Cui, Baosen Zhou, Zhihua Yin Tags: ORIGINAL ARTICLE Source Type: research

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin ‐two cases
ConclusionMetformin may be a candidate drug for treatment of several types of symptoms in individuals with FXS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 18, 2019 Category: Genetics & Stem Cells Authors: Dragana Protic, Elber Y. Aydin, Flora Tassone, Maria M. Tan, Randi J. Hagerman, Andrea Schneider Tags: ORIGINAL ARTICLE Source Type: research

Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome
ConclusionWe show that low ‐level mosaicism can be detected by using high‐coverage targeted NGS panels on constitutional and/or tumor DNA. This report illustrates that by using sensitive sequencing techniques, more cases of genetic diseases driven by mosaic mutations may be identified, with important clinical consequences for patients and family members. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 18, 2019 Category: Genetics & Stem Cells Authors: Willemina R. Geurts ‐Giele, Efraim H. Rosenberg, Anja van Rens, Monique E. van Leerdam, Winand N. Dinjens, Fonnet E. Bleeker Tags: CLINICAL REPORT Source Type: research

Gene signature associated with neuro ‐endocrine activity predicting prognosis of pancreatic carcinoma
The neuro ‐endocrine activity in pancreatic exocrine cancer is largely unknown and highly on‐debated. The diabetes associated pancreatic cancer is a critical evidence for the potential connection. While, in our work, we initially reported the neuro‐endocrine activity prompted the cancer progression, bas ed on the genetic analysis of online The Cancer Genome Atlas and International Cancer Genome Consortium cancer cohorts of pancreatic cancer. AbstractBackgroundGenomic analysis is the promising tool to clear understanding of the tumorigenesis and guide molecular classification for pancreatic cancer. Our purpose was to ...
Source: Molecular Genetics & Genomic Medicine - May 17, 2019 Category: Genetics & Stem Cells Authors: Ke Chen, Yiping He, Yuan Liu, Xiujiang Yang Tags: ORIGINAL ARTICLE Source Type: research

Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
ConclusionOssification of the origin and attachment of muscles seems to be part of the phenotype in patients with OI type V. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 16, 2019 Category: Genetics & Stem Cells Authors: Pantelis Clewemar, Nils P. Hailer, Yasmin Hailer, Joakim Klar, Andreas Kindmark, Östen Ljunggren, Eva‐Lena Stattin Tags: ORIGINAL ARTICLE Source Type: research

Copy number alterations associated with clinical features in an underrepresented population with breast cancer
ConclusionCopy number alterations described in this study provide a better understanding of the landscape of genomic aberrations in mucinous breast cancers that are associated with clinical features. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 16, 2019 Category: Genetics & Stem Cells Authors: Raquel M. Rodrigues ‐Peres, Benilton S. Carvalho, Meenakshi Anurag, Jonathan T. Lei, Livia Conz, Rodrigo Gonçalves, Cássio Cardoso Filho, Susana Ramalho, Geisilene R. Paiva, Sophie F. M. Derchain, Iscia Lopes‐Cendes, Matthew J. Ellis, Lu Tags: ORIGINAL ARTICLE Source Type: research

Systematic genetic analyses of GWAS data reveal an association between the immune system and insomnia
ConclusionsThe current study demonstrates that the immune system and the hippocampus may play central roles in neurodevelopment and insomnia risk. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 15, 2019 Category: Genetics & Stem Cells Authors: Bo Xiang, Kezhi Liu, Minglan Yu, Xuemei Liang, Chaohua Huang, Jin Zhang, Wenying He, Wei Lei, Jing Chen, Xiaochu Gu, Ke Gong Tags: ORIGINAL ARTICLE Source Type: research

Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study
ConclusionsThis study shows that individuals with AS have high HRU/STU, and apart from a few differences, HRU/STU was similar across molecular etiology. These results reflect usage in younger individuals and studies that describe HRU/STU in older individuals are needed. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 14, 2019 Category: Genetics & Stem Cells Authors: Nasreen Khan, Raquel Cabo, Wen ‐Hann Tan, Regina Tayag, Lynne M. Bird Tags: ORIGINAL ARTICLE Source Type: research

MEIS1 knockdown may promote differentiation of esophageal squamous carcinoma cell line KYSE ‐30
ConclusionMEIS1 gene silencing in KYSE ‐30 cells increased expression of epithelial markers and decreased expression of epithelial‐mesenchymal transition (EMT) markerTWIST1. It may highlight the role ofMEIS1 in differentiation process of KYSE ‐30 cells. These results may confirm thatMEIS1 silencing promotes differentiation and decreases EMT capability of ESC cell line KYSE ‐30. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 14, 2019 Category: Genetics & Stem Cells Authors: Reihaneh Alsadat Mahmoudian, Bahareh Bahadori, Abolfazl Rad, Mohammad Reza Abbaszadegan, Mohammad Mahdi Forghanifard Tags: ORIGINAL ARTICLE Source Type: research

Autosomal dominant mitochondrial membrane protein ‐associated neurodegeneration (MPAN)
ConclusionsWe present three lines of clinical evidence to demonstrate that MPAN can manifest as a result of only one pathogenicC19orf12 sequence variant. We propose that truncated C19orf12 proteins, resulting from nonsense variants in the final exon in our autosomal dominant cohort, impair function of the normal protein produced from the non ‐mutated allele via a dominant negative mechanism and cause loss of function. These findings impact the clinical diagnostic evaluation and counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 13, 2019 Category: Genetics & Stem Cells Authors: Allison Gregory, Mitesh Lotia, Suh Young Jeong, Rachel Fox, Dolly Zhen, Lynn Sanford, Jeff Hamada, Amir Jahic, Christian Beetz, Alison Freed, Manju A. Kurian, Thomas Cullup, Marlous C. M. van der Weijden, Vy Nguyen, Naly Setthavongsack, Dap Tags: ORIGINAL ARTICLE Source Type: research

Identification of novel biomarkers and small molecule drugs in human colorectal cancer by microarray and bioinformatics analysis
ConclusionOur study found key dysregulated genes involved in CRC and potential drugs to combat it, which may provide novel insights and potential biomarkers for prognosis, as well as providing new CRC treatments. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 13, 2019 Category: Genetics & Stem Cells Authors: Juan Chen, Ziheng Wang, Xianjuan Shen, Xiaopeng Cui, Yuehua Guo Tags: ORIGINAL ARTICLE Source Type: research

Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature
ConclusionThis report highlights the potential of aCGH as a practical and powerful tool with which to detect submicroscopic chromosomal abnormalities in individuals presenting with a wide spectrum of phenotypes, ranging from facial dysmorphism to failure to thrive. Additionally, the literature review casts new light on the clinical features of 20p13 microdeletion. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 13, 2019 Category: Genetics & Stem Cells Authors: Hung ‐Hsiang Fang, Shih‐Yao Liu, Ying‐Fu Wang, Che‐Ming Chiang, Chiung‐Chen Liu, Chien‐Ming Lin Tags: CLINICAL REPORT Source Type: research

Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma
ConclusionThis report describes aKRT9 c.488G  >  A (p.Arg163Gln) variant causing a diffuse phenotype of Chinese EPPK. The current results broaden the spectrum ofKRT9 pathogenic variants responsible for EPPK and have important implications for molecular diagnosis, treatment, and genetic counseling for this family. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 9, 2019 Category: Genetics & Stem Cells Authors: Changxing Li, Pingjiao Chen, Silong Sun, Kang Zeng, Jingyao Liang, Qi Wang, Sanquan Zhang, Meinian Xu, Zhijia Li, Xibao Zhang Tags: CLINICAL REPORT Source Type: research

Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature
ConclusionFISH should be recommended to evaluate low proportion mosaicism in similar cases. Due to the risk of ovarian failure, fertility preservation for patients with 45,X/47,XXX mosaicism at a younger age must be considered. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2019 Category: Genetics & Stem Cells Authors: Ruiyi Tang, Lin Lin, Zaixin Guo, Haiyan Hou, Qi Yu Tags: CLINICAL REPORT Source Type: research

The influence of ACYP2 polymorphisms on gastrointestinal cancer susceptibility in the Chinese Han population
ConclusionOur study suggested that polymorphisms ofACYP2 gene might be associated with susceptibility to GI cancer. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2019 Category: Genetics & Stem Cells Authors: Xianglong Duan, Jiajing Hong, Fuchun Wang, Kun Wei, Pengyuan Wang, Feng Hou, Min Zhang, Dengfeng Liu, Dongya Yuan, Sida Liu Tags: ORIGINAL ARTICLE Source Type: research

Targeted fetal cell ‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study
ConclusionsTargeted NIPT results suggest that MiSeq platform could be used for NIPT which would be an essential option particularly for laboratories with low sample flow. And, the NextSeq platform has easier wet lab process and also increased success rate in automatic reporting which is suitable for centers with high number of NIPT cases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2019 Category: Genetics & Stem Cells Authors: Altug Koc, Ozge Ozer Kaya, Berk Ozyilmaz, Yasar B. Kutbay, Ozgur Kirbiyik, Taha R. Ozdemir, Kadri M. Erdogan, Merve Saka Guvenc, Deniz C. Oztekin, Mehmet Ozeren, Halil G. Pala, Atalay Ekin, Cenk Gezer, Alkim G. Sahingoz Yildirim, Bahar Konur Tags: ORIGINAL ARTICLE Source Type: research

Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India
ConclusionUnderstanding genetic basis of obesity might provide  a clue for better management and treatment in times to come. This work demonstrates identification of novel mutation inLEPR gene resulting into early onset of obesity. Discovery of novel, population ‐specific genomics markers will help population screening programs in creating base for possible therapeutic applications and prevention of this disease for next generations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2019 Category: Genetics & Stem Cells Authors: Arpan Bhatt, Charul Purani, Poonam Bhargava, Komal Patel, Tanvi Agarbattiwala, Apurvasinh Puvar, Krati Shah, Chaitanya G. Joshi, Nidhi Dhamecha, Mukund Prabhakar, Madhvi Joshi Tags: ORIGINAL ARTICLE Source Type: research

A mutation in Site ‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema
ConclusionThese findings suggest a critical function for S1P in several human organ systems and implicate an important role for S1P in various human disease states. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2019 Category: Genetics & Stem Cells Authors: George G. Schweitzer, Connie Gan, Robert C. Bucelli, Daniel Wegner, Robert E. Schmidt, Marwan Shinawi, Brian N. Finck, Rita T. Brookheart Tags: CLINICAL REPORT Source Type: research

Genetic variants in the ITPR2 gene are associated with Kashin ‐Beck Disease in Tibetan
ConclusionThe results indicate a potential association betweenITPR2 and KBD risk in Tibetan. Further work is required to confirm these results and explore the mechanisms of these effects. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 7, 2019 Category: Genetics & Stem Cells Authors: Xue He, Mei Bai, Ming Liu, Li Wang, Yongjun He, Hao Rong, Dongya Yuan, Tianbo Jin Tags: ORIGINAL ARTICLE Source Type: research

The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium
ConclusionThis study suggests that the Lys/Lys genotype confers susceptibility to BC risk among women of Asian ancestry, particularly for ER ‐positive, PR‐positive, and HER2‐negative tumor types. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 7, 2019 Category: Genetics & Stem Cells Authors: Tomotaka Ugai, Roger L. Milne, Hidemi Ito, Kristan J. Aronson, Manjeet K. Bolla, Tsun Chan, Ching W. Chan, Ji ‐Yeob Choi, Don M. Conroy, Joe Dennis, Alison M. Dunning, Douglas F. Easton, Valerie Gaborieau, Anna Gonzalez‐Neira, Mikael Har Tags: ORIGINAL ARTICLE Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 7, Issue 5, May 2019. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

A case of combined 21 ‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism
ConclusionAlthough these two disorders exhibit different modes of inheritance and their co ‐morbidity is extremely rare, we encountered one male patient who suffered from both 21‐OHD and CS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Authors: Satoko Umino, Miyuki Kitamura, Yuko Katoh ‐Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga Tags: CLINICAL REPORT Source Type: research

Diverse phenotypes in children with PAX2 ‐related disorder
ConclusionWe firstly reported skeletal deformity (fourth metatarsal microsomia), ovarian teratoma, and congenital ventricular septal defect as new phenotypes ofPAX2‐related disorder which enlarged the phenotypic spectrum. Gout was firstly reported as the onset symptom ofPAX2‐related disorder. The diagnosis ofPAX2‐related disorder should be considered without family history due to a much higher percentage ofDe novo mutations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Authors: Haiyue Deng, Yanqin Zhang, Huijie Xiao, Yong Yao, Xiaoyu Liu, Baige Su, Hongwen Zhang, Ke Xu, Suxia Wang, Fang Wang, Jie Ding Tags: ORIGINAL ARTICLE Source Type: research

The Enamel Phenotype in Homozygous Fam83h Truncation Mice
ConclusionsConsideringFam83h−/− mice showed no enamel phenotype, whileFam83hTr/Tr (p.Tyr297*) mice displayed obvious enamel malformations, we conclude thatFAM83H truncation mutations causing ADHCAI in humans disturb amelogenesis through a neomorphic mechanism, rather than haploinsufficiency. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Authors: Shih ‐Kai Wang, Yuanyuan Hu, Charles E. Smith, Jie Yang, Chunhua Zeng, Jung‐Wook Kim, Jan C‐C. Hu, James P. Simmer Tags: ORIGINAL ARTICLE Source Type: research

Transcriptome analysis identifies metallothionein as biomarkers to predict recurrence in hepatocellular cacinoma
ConclusionWe identified a group of Metallothionein genes as biomarkers to predict recurrence. The metallothionein genes were all down ‐regulated in tumor samples, suggesting that low metallothionein expression may be a promoter of tumor growth. In addition, using de novo assembly identified some unique biomarkers, further confirmed the necessity of conducting a de novo assembly in human cancer study. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Authors: Sufang Wang, Michael Gribskov Tags: ORIGINAL ARTICLE Source Type: research

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next ‐generation sequencing technology
ConclusionsTargeted NGS panel was helpful in detecting typical ADPKD patients and even in non ‐typical PKD patients. Macromutation in HNF1B may lead to bilateral PKD. The 16 novel PKD gene mutation sites and two novel PKD2 gene mutation sites discovered in this study have some significance in genetic counseling for ADPKD patients, and increase the number of studied families and expand the mutation database of ADPKD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Authors: Tao Wang, Qinggang Li, Shunlai Shang, Guangrui Geng, Yuansheng Xie, Guangyan Cai, Xiangmei Chen Tags: ORIGINAL ARTICLE Source Type: research

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant
ConclusionThis report expands the phenotypic spectrum of the disorder due toCCND2 variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 6, 2019 Category: Genetics & Stem Cells Authors: Gerarda Cappuccio, Lorenzo Ugga, Elena Parrini, Alessandra D ’Amico, Nicola Brunetti‐Pierri Tags: ORIGINAL ARTICLE Source Type: research

PMS2 germline mutation c.943C > T (p.Arg315*) ‐induced Lynch syndrome‐associated ovarian cancer
ConclusionCarryingPMS2 germline mutations (c.943C>T) confers an extremely high susceptibility of suffering from LS ‐associated cancers. Thus, close clinical monitoring and prophylactic surgery is highly recommended to help reduce the morbidity and mortality of LS‐associated cancers. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 5, 2019 Category: Genetics & Stem Cells Authors: Xiaoqing Guo, Weimin Wu, Hao Gao, Xiaofeng Li, Qizhi He, Yong Zhu, Na Liu Tags: ORIGINAL ARTICLE Source Type: research

Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation
ConclusionOur patient illustrates the importance of recognizing this serious genetic condition for which preventive cancer screening options are available. The positive weight loss results after Sleeve Gastrectomy suggest that this could be a successful treatment option for obesity patients withPTEN mutations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 4, 2019 Category: Genetics & Stem Cells Authors: Mellody I. Cooiman, Lotte Kleinendorst, Bert Zwaag, Ignace M. C. Janssen, Frits J. Berends, Mieke M. van Haelst Tags: ORIGINAL ARTICLE Source Type: research