IL ‐4 gene polymorphisms and their relation to steroid‐induced osteonecrosis of the femoral head in Chinese population
ConclusionThese findings suggested that polymorphisms ofIL ‐4 gene may be associated with susceptibility to steroid ‐induced ONFH. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 29, 2019 Category: Genetics & Stem Cells Authors: Tianbo Jin, Yiming Zhang, Yao Sun, Jiamin Wu, Zichao Xiong, Zhi Yang Tags: ORIGINAL ARTICLE Source Type: research

Tau protein function: The mechanical exploration of axonal transport disorder caused by persistent pressure in dorsal root ganglia
The function of the synaptic glutamic acid vesicle is defective in the synapse. This process is crucial in the development and progression of axonal transport dysfunction induced by chronic DRG, and phosphorylation of Tau plays a crucial part in this process. AbstractObjectiveWe analyzed the function of Tau protein to explore the underlying mechanism of axonal transport disorder caused by persistent pressure in the dorsal root ganglia (DRG).MethodsWistar rats were divided into the sham operated group, the control group and the experimental group. The Wistar rat model of continuous compression of DRG was used for further in...
Source: Molecular Genetics & Genomic Medicine - January 29, 2019 Category: Genetics & Stem Cells Authors: Lei Zhang, Jun Fu, Xin ‐Hua Cheng, Li Tang Tags: ORIGINAL ARTICLE Source Type: research

A novel fusion gene involving PDGFRB and GCC2 in a chronic eosinophilic leukemia patient harboring t(2;5)(q37;q31)
ConclusionThis is the first case report demonstrating theGCC2 gene as a partner ofPDGFRB in the pathogenesis of CEL. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 29, 2019 Category: Genetics & Stem Cells Authors: Noriyoshi Iriyama, Hiromichi Takahashi, Hiromu Naruse, Katsuhiro Miura, Yoshihito Uchino, Masaru Nakagawa, Kazuhide Iizuka, Takashi Hamada, Yoshihiro Hatta, Tomohiro Nakayama, Masami Takei Tags: ORIGINAL ARTICLE Source Type: research

Mutation analysis of common deafness genes among 1,201 patients with non ‐syndromic hearing loss in Shanxi Province
ConclusionIn our research, it was found that c.235delC inGJB2 and c.919 ‐2A>G (IVS7 ‐2A>G) inSLC26A4 were the highest frequency pathogenic variants in Shanxi Province. Taken together, our data will enrich the database of deafness mutations and will help clinical diagnosis, treatment, and genetic counseling of hearing impairment. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 28, 2019 Category: Genetics & Stem Cells Authors: Yongan Zhou, Chao Li, Min Li, Zhonghua Zhao, Shuxiong Tian, Hou Xia, Peixian Liu, Yaxin Han, Ruirui Ren, Jianping Chen, Caihong Jia, Wei Guo Tags: ORIGINAL ARTICLE Source Type: research

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10 ‐year period
ConclusionThe large increase in the annual number of prenatal diagnoses performed due to a previous pregnancy with ade novo mutation reflects the growing understanding regarding the role of these mutations in the pathogenesis of genetic diseases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 28, 2019 Category: Genetics & Stem Cells Authors: Ori Eyal, Michal Berkenstadt, Haike Reznik ‐Wolf, Hana Poran, Tomer Ziv‐Baran, Lior Greenbaum, Hagit Yonath, Elon Pras Tags: ORIGINAL ARTICLE Source Type: research

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia
ConclusionsProtein informatics and molecular modeling are used to confirm the pathogenicity of the uniqueTRPV4 variant found in this family. Multiple data were combined in a comprehensive manner to give complete overall perspective on the patient disease and prognosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 28, 2019 Category: Genetics & Stem Cells Authors: Stephanie L. Hines, John E. Richter, Ahmed N. Mohammad, Jain Mahim, Paldeep S. Atwal, Thomas R. Caulfield Tags: ORIGINAL ARTICLE Source Type: research

The 6q25.1 rs2046210 polymorphism is associated with an elevated susceptibility to breast cancer: A meta ‐analysis of 261,703 subjects
This is so far the most comprehensive evidence ‐based meta‐analysis on rs2046210 polymorphism and individual susceptibility to BC. Our findings indicated that rs2046210 polymorphism may serve as a potential genetic biomarker of BC in both Asians and Caucasians. AbstractBackgroundSeveral genome ‐wide association studies already explored the associations between 6q25.1 rs2046210 polymorphism and breast cancer (BC), but the results of these studies were not consistent. Thus, we conducted a meta‐analysis of relevant studies to better analyze the effects of rs2046210 polymorphism on indivi dual susceptibility to BC.Meth...
Source: Molecular Genetics & Genomic Medicine - January 28, 2019 Category: Genetics & Stem Cells Authors: Tie ‐feng Jin, Wen‐ting Zhang, Zhen‐feng Zhou Tags: ORIGINAL ARTICLE Source Type: research

Variants identified in PTK7 associated with neural tube defects
ConclusionOur study suggests that rare missense variants inPTK7 contribute to the genetic risk of NTDs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 28, 2019 Category: Genetics & Stem Cells Authors: Yunping Lei, Sung ‐Eun Kim, Zhongzhong Chen, Xuanye Cao, Huiping Zhu, Wei Yang, Gary M. Shaw, Yufang Zheng, Ting Zhang, Hong‐Yan Wang, Richard H. Finnell Tags: ORIGINAL ARTICLE Source Type: research

Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty
ConclusionThis case of severe 46,XY DSD raises the question of the role played by 8p23 microdeletion in gonadal dysgenesis. Clinicians are encouraged to look for this anomaly on chromosome 8 in cases of unexplained gonadal dysgenesis even when few signs suggestive of this anomaly are present. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 28, 2019 Category: Genetics & Stem Cells Authors: Kathy Wagner ‐Mahler, Jean‐Yves Kurzenne, Frederique Gastaud, Marie Hoflack, Patricia Panaia Ferrari, Etienne Berard, Fabienne Giuliano, Houda Karmous‐Benailly, Pamela Moceri, Celine Jouannelle, Marine Bourcier, Elise Robart, Yves Morel Tags: ORIGINAL ARTICLE Source Type: research

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites
ConclusionsThis study confirms the potential of novel in silico algorithms to detect cryptic mutations in existing NGS data; expands the phenotypic spectrum ofATP2A1 mutations beyond classic Brody myopathy; and suggests that genetic testing ofATP2A1 should be considered in patients with clinical myotonia. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 28, 2019 Category: Genetics & Stem Cells Authors: Christine C. Bruels, Chengcheng Li, Tonatiuh Mendoza, Jamillah Khan, Hemakumar M. Reddy, Elicia A. Estrella, Partha S. Ghosh, Basil T. Darras, Hart G. W. Lidov, Christina A. Pacak, Louis M. Kunkel, Fran çois Modave, Isabelle Draper, Peter B. Tags: ORIGINAL ARTICLE Source Type: research

Interaction of germline variants in a family with a history of early ‐onset clear cell renal cell carcinoma
ConclusionTogether, these data suggest the possibility of risk associated with interaction of two or more variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 24, 2019 Category: Genetics & Stem Cells Authors: Emmanuelle Nicolas, Elena V. Demidova, Waleed Iqbal, Ilya G. Serebriiskii, Ramilia Vlasenkova, Pooja Ghatalia, Yan Zhou, Kim Rainey, Andrea F. Forman, Roland L. Dunbrack, Erica A. Golemis, Michael J. Hall, Mary B. Daly, Sanjeevani Arora Tags: ORIGINAL ARTICLE Source Type: research

De novo and inherited pathogenic variants in collagen ‐related osteogenesis imperfecta
ConclusionIn summary, there were significant differences between the phenotypes and genotypes of subjects withde novo and inherited OI. These findings may promote the further understanding of OI etiology, and assist with diagnostics procedures, as well as with family planning. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 24, 2019 Category: Genetics & Stem Cells Authors: Lidiia Zhytnik, Katre Maasalu, Binh Ho Duy, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev K õks, Aare Märtson Tags: ORIGINAL ARTICLE Source Type: research

The prevalence of germline DICER1 pathogenic variation in cancer populations
ConclusionThis is the largest comprehensive analysis ofDICER1 pathogenic variation in adult and pediatric cancer populations using publicly available data. The observation of germlineDICER1 variation with uterine corpus endometrial carcinoma merits additional investigation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 22, 2019 Category: Genetics & Stem Cells Authors: Jung Kim, Kris Ann P. Schultz, Dana Ashley Hill, Douglas R. Stewart Tags: ORIGINAL ARTICLE Source Type: research

Association of the TBK1 mutation p.Ile334Thr with frontotemporal dementia and literature review
ConclusionWe proposed the TBK1 mutation p.Ile334Thr as a likely pathogenic variant in bvFTD which also expanded the clinical spectrum of this variant. It can partially abrogate TBK1 functions and be responsible for FTD ‐ALS spectrum diseases through neuroinflammatory pathway. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 22, 2019 Category: Genetics & Stem Cells Authors: Huiling Yu, Wenbo Yu, Su ‐shan Luo, Yu‐Jie Yang, Feng‐Tao Liu, Yue Zhang, Yan Chen, Yi‐min Sun, Jian‐jun Wu Tags: ORIGINAL ARTICLE Source Type: research

Association between the IL1R2 rs2072472 polymorphism and high ‐altitude pulmonary edema risk
ConclusionThese findings suggested thatIL1R2polymorphisms may contribute to the protection of HAPE. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 22, 2019 Category: Genetics & Stem Cells Authors: Tianbo Jin, Linhao Zhu, Mei Bai, Xue He, Li Wang, Dongya Yuan, Shanqu Li, Yongjun He Tags: ORIGINAL ARTICLE Source Type: research

Clinical application of single ‐molecule optical mapping to a multigeneration FSHD1 pedigree
ConclusionBased on our findings, we propose that SMOM is a reliable and accurate technique suitable for the molecular diagnosis of FSHD1. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 21, 2019 Category: Genetics & Stem Cells Authors: Qian Zhang, Xueqin Xu, Lirong Ding, Huanzheng Li, Chengyang Xu, Yuyan Gong, Ying Liu, Ting Mu, Don Leigh, David S. Cram, Shaohua Tang Tags: ORIGINAL ARTICLE Source Type: research

Association between single nucleotide polymorphism (rs4252424) in TRPV5 calcium channel gene and lead poisoning in Chinese workers
In this study, we treated the BLL as a continuous variable and performed a multiple linear regression instead of the logistic regression in traditional case‐control study. We successfully indentified that a no ble TRPV5 polymorphism rs4252424 is significantly associated with the individuals’ BLL. The following expression quantitative trait loci analysis (eQTL) also highlighted the remarkable protective effect of rs4252424 CT genotype in persons underwent the same external exposure of plumbum. AbstractBackgroundLead (Pb) is broadly used in various industries and causes irreversible damage to human tissues, organs, a...
Source: Molecular Genetics & Genomic Medicine - January 21, 2019 Category: Genetics & Stem Cells Authors: Jiting Liu, Li Zhang, Lixia Feng, Ming Xu, Yue Gao, Peng Zhou, Zhengmin Yu, Baoli Zhu, Yan An, Hengdong Zhang Tags: ORIGINAL ARTICLE Source Type: research

BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ
ConclusionDCIS is equally as prevalent in patients who wereBRCA mutation carriers as in high familial ‐risk women who were noncarriers, but occurs at earlier age.BRCA2 carriers have higher incidence in DCIS than that ofBRCA1 carriers, and tend to be higher grade and more frequently ER positive and lower proliferation. Total relatives with BC DX ≥2, age at diagnosis ≤35 years and ER+/HER2+ might be independent predictors forBRCA mutation in Japanese women with DCIS and patients of these risk factors should be recommended to receive genetic counseling andBRCA testing. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 16, 2019 Category: Genetics & Stem Cells Authors: Yan Liu, Yoshimi Ide, Mayuko Inuzuka, Sakiko Tazawa, Yoko Kanada, Yuki Matsunaga, Takashi Kuwayama, Terumasa Sawada, Sadako Akashi ‐Tanaka, Seigo Nakamura Tags: ORIGINAL ARTICLE Source Type: research

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION
ConclusionThe Oxford Nanopore MinION can detect missense mutations and an exonic deletion in this difficult gene, with the added advantages of phasing and intronic analysis. It can be used as an efficient research tool, but additional work is required to exclude all recombinants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 13, 2019 Category: Genetics & Stem Cells Authors: Melissa Leija ‐Salazar, Fritz J. Sedlazeck, Marco Toffoli, Stephen Mullin, Katya Mokretar, Maria Athanasopoulou, Aimee Donald, Reena Sharma, Derralynn Hughes, Anthony H.V. Schapira, Christos Proukakis Tags: METHOD Source Type: research

The promising role of PAX1 (aliases: HUP48, OFC2) gene methylation in cancer screening
ConclusionAccording to current evidence, combined testing for human papillomavirus andPAX1 methylation analysis represents an efficacious cervical cancer ‐screening protocol. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 12, 2019 Category: Genetics & Stem Cells Authors: Chao Fang, Sai ‐Ying Wang, Yu‐Ligh Liou, Ming‐Hua Chen, Wen Ouyang, Kai‐Ming Duan Tags: REVIEW ARTICLE Source Type: research

RNA ‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas
ConclusionsWhile mosaic mutations and deletions ofEXT1 andEXT2 have been reported in the context of multiple osteochondromas, to our knowledge, this is the first time that transcriptomics technologies have been used to diagnose a patient via fusion transcript analysis in the congenital disease setting. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 10, 2019 Category: Genetics & Stem Cells Authors: Gavin R. Oliver, Patrick R. Blackburn, Marissa S. Ellingson, Erin Conboy, Filippo Pinto e Vairo, Matthew Webley, Erik Thorland, Matthew Ferber, Els Van Hul, Ilse M. Werf, Wim Wuyts, Dusica Babovic ‐Vuksanovic, Eric W. Klee Tags: ORIGINAL ARTICLE Source Type: research

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation
ConclusionIn the present study, we identified rare CNVs contributing pathogenic or potentially pathogenic alleles in five patients with syndromic intestinal malrotation, suggesting that CNV screening is indicated in intestinal malrotation with associated malformations or neurological involvements. In addition, we identified intestinal malrotation in two known syndromes (Cornelia de Lange type 5 and 18q terminal deletion syndrome) that has not previously been associated with gastrointestinal malformations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 10, 2019 Category: Genetics & Stem Cells Authors: Karin Salehi Karlsl ätt, Maria Pettersson, Nina Jäntti, Przemyslaw Szafranski, Tomas Wester, Britt Husberg, Ulla Ullberg, Pawel Stankiewicz, Ann Nordgren, Johanna Lundin, Anna Lindstrand, Agneta Nordenskjöld Tags: ORIGINAL ARTICLE Source Type: research

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism ‐array analysis
In this paper, is reported the identification of two chimeric patients, a rare finding if sexual abnormalities are absent. However, their chimeric condition is responsible at least for the Silver –Russell phenotype observed in one of the two patients. By single nucleotide polymorphism‐array analyses, it was possible to clearly define the mechanism responsible for this unusual finding, underlining the importance of this technique in bringing out the perhaps submerged world of chimeras. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 9, 2019 Category: Genetics & Stem Cells Authors: Roberta Bottega, Stefania Cappellani, Antonella Fabretto, Alessandro Mauro Spinelli, Giovanni Maria Severini, Michelangelo Aloisio, Michela Faleschini, Emmanouil Athanasakis, Irene Bruno, Flavio Faletra, Vanna Pecile Tags: LETTER TO THE EDITOR Source Type: research

A comprehensive study of immunology repertoires in both preoperative stage and postoperative stage in patients with colorectal cancer
ConclusionIn conclusion, CRC patients were presented with different immune repertoire in comparison with healthy controls. In this study, significant difference in TRBV and TRBJ gene usage in between case and control group could provide some potential biomarker for the diagnosis and the treatment of the patients with CRC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 9, 2019 Category: Genetics & Stem Cells Authors: Xicheng Liu, Yuanyuan Cui, Yaoxian Zhang, Zhanli Liu, Qiuli Zhang, Wenyan Wu, Zihao Zheng, Shien Li, Zhongjun Zhang, Yali Li Tags: ORIGINAL ARTICLE Source Type: research

Impact of IL1R1 and IL1R2 gene polymorphisms on risk of osteonecrosis of the femoral head from a case –control study
ConclusionOur findings have demonstrated that the rs11674595 (IL1R2), rs10490571, and rs3917225 (IL1R1) were significantly associated with increasing the ONFH risk in the Chinese Han population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 8, 2019 Category: Genetics & Stem Cells Authors: Feimeng An, Jiaqi Wang, Hongyan Gao, Chang Liu, Ye Tian, Tianbo Jin, Wanlin Liu, Jianzhong Wang Tags: ORIGINAL ARTICLE Source Type: research

Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G > A mutation presents with incomplete penetrance and sex bias
ConclusionHomoplasmic m.3697G>A mutation could be associated with BSN, which expanded the clinical spectrum of m.3697G>A. Our preliminary investigations had not found the underlying modifiers to support the double hit hypothesis, while the high level of estrogens in the female patients might exert a potential compensatory effect on mutant cell metabolism. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 8, 2019 Category: Genetics & Stem Cells Authors: Shanshan Zhong, Shumeng Wen, Yusen Qiu, Yanyan Yu, Ling Xin, Yang He, Xuguang Gao, Hezhi Fang, Daojun Hong, Jun Zhang Tags: ORIGINAL ARTICLE Source Type: research

Forkhead box O3 promotes colon cancer proliferation and drug resistance by activating MDR1 expression
ConclusionForkhead box O3 exhibited promotive effects on the proliferation and doxorubicin resistance in CC cells via targeting MDR1. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 8, 2019 Category: Genetics & Stem Cells Authors: Zhuanglei Gao, Zhaoxia Li, Yuelin Liu, Zhonghao Liu Tags: ORIGINAL ARTICLE Source Type: research

Genetic analysis of the relation of telomere length ‐related gene (RTEL1) and coronary heart disease risk
The aim of this study was to investigate the association between genetic polymorphisms in RTEL1 gene and CHD risk, and these findings demonstrated that the genetic variants of RTEL1 may contribute to a protective role against CHD risk. AbstractBackgroundRegulator of telomere elongation helicase 1 (RTEL1), a telomere length ‐related gene, is closely linked to cancer and age‐related diseases. The aim of this study was to investigate the association between genetic polymorphisms in theRTEL1 gene and coronary heart disease (CHD) risk.MethodsIn this case –control study, which includes samples from 596 CHD patients and...
Source: Molecular Genetics & Genomic Medicine - January 8, 2019 Category: Genetics & Stem Cells Authors: Shijuan Lu, Jianghua Zhong, Miao Wu, Kang Huang, Yilei Zhou, Zanrui Zhong, Qiang Li, Honghao Zhou Tags: ORIGINAL ARTICLE Source Type: research

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance
ConclusionOur findings confirm variable expressivity and incomplete penetrance for atypical nested 22q11.2 duplications and identify genes such asPI4KA to be directly relevant to brain development and disorder. We conclude that further work is needed to elucidate the basis of variable neurodevelopmental phenotypes and to exclude the presence of a second disorder. Our findings contribute to the genotype –phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 4, 2019 Category: Genetics & Stem Cells Authors: Karen J. Woodward, Julie Stampalia, Hannah Vanyai, Hashika Rijhumal, Kim Potts, Fiona Taylor, Joanne Peverall, Tanya Grumball, Soruba Sivamoorthy, Hamid Alinejad ‐Rokny, John Wray, Andrew Whitehouse, Lakshmi Nagarajan, Jacqueline Scurlock, Tags: ORIGINAL ARTICLE Source Type: research

High expression of FAM13A was associated with increasing the liver cirrhosis risk
ConclusionOur findings demonstrated that the high expression ofFAM13A may be associated with an increased risk of liver cirrhosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 2, 2019 Category: Genetics & Stem Cells Authors: Yingai Zhang, Shunlan Wang, Chan Wang, Jingchuan Xiao, Shufang Zhang, Hailong Zhou Tags: ORIGINAL ARTICLE Source Type: research

Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon
ConclusionThe combined use of bioassay and protein analysis is particularly meaningful to resolve the CFTR phenotype of “indeterminate” borderlineCFTR genotypes on a case ‐to‐case basis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 1, 2019 Category: Genetics & Stem Cells Authors: Sylvia Schucht, Rebecca Minso, Christiane Lex, Jochen Reiss, Frauke Stanke, Stephanie Tamm, Andrea van Barneveld, Burkhard T ümmler Tags: CLINICAL REPORT Source Type: research

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan
ConclusionOur results contribute to expanding the mutational spectrum of ARCI and revealed new insights into genotype/phenotype correlations. The findings are instrumental for a faster and more precise diagnosis, a better understanding of the pathophysiology, and the definition of targets for more specific therapies for ARCI. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 1, 2019 Category: Genetics & Stem Cells Authors: Dulce Lima Cunha, Omar Mohammed Alakloby, Robert Gruber, Naseebullah Kakar, Jamil Ahmad, Salem Alawbathani, Roswitha Plank, Katja Eckl, Birgit Krabichler, Janine Altm üller, Peter Nürnberg, Johannes Zschocke, Guntram Borck, Matthias Schmuth Tags: ORIGINAL ARTICLE Source Type: research

Association of human leukocyte antigens ‐DQB2/DPA1/DPB1 polymorphism and pulmonary tuberculosis in the Chinese Uygur population
ConclusionThese results suggested that the functional HLA ‐DQB2 rs7453920 G>A polymorphism may contribute to the genetic susceptibility to TB. Nevertheless, the results were based on a limited sample size, and larger well ‐designed studies are expected to confirm these preliminary findings. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 1, 2019 Category: Genetics & Stem Cells Authors: Xue Wang, Xudong Cao, Wanjiang Zhang, Le Zhang, Lijun Lu, Xinyue Li, Saeed El ‐Ashram, Jiangdong Wu, Chuangfu Chen Tags: ORIGINAL ARTICLE Source Type: research

microRNA ‐27a and microRNA‐146a SNP in cerebral malaria
ConclusionOur data supported that the candidate microRNA SNPs have no major role to develop cerebral malaria. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 1, 2019 Category: Genetics & Stem Cells Authors: Saw Thu Wah, Hathairad Hananantachai, Jintana Patarapotikul, Jun Ohashi, Izumi Naka, Pornlada Nuchnoi Tags: ORIGINAL ARTICLE Source Type: research

Genetic variations in familial hypercholesterolemia and cascade screening in East Asians
ConclusionApproximately two ‐third of the subjects in this clinically ascertained sample of patients with FH had a discrete genetic basis. Genetic identification improves the response rate and efficiency of family screening. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 27, 2018 Category: Genetics & Stem Cells Authors: Melody Lok ‐Yi Chan, Ching‐Lung Cheung, Alan Chun‐Hong Lee, Chun‐Yip Yeung, Chung‐Wah Siu, Jenny Yin‐Yan Leung, Ho‐Kwong Pang, Kathryn Choon‐Beng Tan Tags: ORIGINAL ARTICLE Source Type: research

MicroRNA ‐186 is associated with hypoxia‐inducible factor‐1α expression in chronic obstructive pulmonary disease
ConclusionsThese data suggested that miR ‐186 contributes to the pathogenesis of COPD and that miRNA‐186 may also affect the HIF‐1α‐dependent lung structure maintenance program. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 21, 2018 Category: Genetics & Stem Cells Authors: Li Lin, Juan Sun, Duoyi Wu, Daobo Lin, Dingwei Sun, Quanni Li, Jiannan Chen, Huan Niu, Ping He, Yipeng Ding Tags: ORIGINAL ARTICLE Source Type: research

An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation
ConclusionThis rare case of an p.Arg133His hemizygousMECP2 missense mutation could guide future treatment and follow ‐up plans for RETT‐like phenotypes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 19, 2018 Category: Genetics & Stem Cells Authors: Jin A. Yoon, Yongjin Yoo, Je Sang Lee, Young Mi Kim, Yong Beom Shin Tags: CLINICAL REPORT Source Type: research

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
ConclusionOur findings show that (a) both simple and complex unbalanced rearrangements may result by the recombination of a cryptic parental balanced chromothripsis and that (b) insertional translocations are the spy of more complex rearrangements and not simply a three ‐breakpoint event. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 18, 2018 Category: Genetics & Stem Cells Authors: Nehir Edibe Kurtas, Luciano Xumerle, Ursula Giussani, Alessandra Pansa, Laura Cardarelli, Veronica Bertini, Angelo Valetto, Thomas Liehr, Maria Clara Bonaglia, Edoardo Errichiello, Massimo Delledonne, Orsetta Zuffardi Tags: ORIGINAL ARTICLE Source Type: research

Clinical application of chromosomal microarray analysis for the diagnosis of Williams –Beuren syndrome in Chinese Han patients
ConclusionCMA facilitates diagnosis in individuals with classic/nonclassic features of WBS and demonstrated that when Chinese Han patients present with a less classical phenotype, such as pulmonary abnormalities, this may raise suspicion for a WBS diagnosis and suggest a referral for a genetics evaluation for a differential diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 18, 2018 Category: Genetics & Stem Cells Authors: Yu Xia, Shufang Huang, Yueheng Wu, Yongchao Yang, Shaoxian Chen, Ping Li, Jian Zhuang Tags: ORIGINAL ARTICLE Source Type: research

Identification of genes associated with cancer progression and prognosis in lung adenocarcinoma: Analyses based on microarray from Oncomine and The Cancer Genome Atlas databases
ConclusionOur findings implicateAGER andCCNB1 might be potential biomarkers for diagnosis and prognosis targets for LUAD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 16, 2018 Category: Genetics & Stem Cells Authors: Wei Liu, Songyun Ouyang, Zhigang Zhou, Meng Wang, Tingting Wang, Yu Qi, Chunling Zhao, Kuisheng Chen, Liping Dai Tags: ORIGINAL ARTICLE Source Type: research

Cancer genetics program: Follow ‐up on clinical genetics and genomic medicine in Qatar
This article presents an overview of the cancer genetics program in Qatar. In addition to summarizing clinical, research, educational, and other aspects, data related to testing outcomes (over the course of approximately 5.5  years) are presented. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 16, 2018 Category: Genetics & Stem Cells Authors: Salha Bujassoum Al ‐Bader, Reem Alsulaiman, Hekmet Bugrein, Tawfeg Ben Omran, Fatemeh Abbaszadeh, Nawal Bakheet, Sitti Apsa Kusasi, Nema Abdou, Benjamin D. Solomon, Hafedh Ghazouani Tags: INVITED COMMENTARY Source Type: research

The −44 C/G (rs1800972) polymorphism of the β‐defensin 1 is associated with increased risk of developing type 2 diabetes mellitus
ConclusionThis study demonstrates that the C allele of −44 C/G polymorphism, as well as haplotype AC are associated with the presence of T2DM in the Mexican population. The variation in this polymorphism of theDEFB1 gene could increase the migration of the macrophages to pancreatic islets accelerate the β‐cell dysfunction in T2DM. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 13, 2018 Category: Genetics & Stem Cells Authors: Marco Antonio Martinez ‐Rios, Gilberto Vargas‐Alarcon, Marco Antonio Peña‐Duque, Oscar Perez‐Mendez, Jose Manuel Rodriguez‐Perez, Nonanzit Perez‐Hernandez, Gabriel Herrera‐Maya, Rosalinda Posadas‐Sanchez, Carlos Posadas‐Romero, Tags: ORIGINAL ARTICLE Source Type: research

MMP ‐14 single‐nucleotide polymorphisms are related to steroid‐induced osteonecrosis of the femoral head in the population of northern China
ConclusionsWe have confirmed that the susceptive SNPs (rs2236302) ofMMP ‐14 from theMMPs/TIMPs system exhibit a significant association with increased risk of steroid ‐induced ONFH in the population of northern China. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 12, 2018 Category: Genetics & Stem Cells Authors: Yuxin Qi, Jiaqi Wang, Mingqi Sun, Chao Ma, Tianbo Jin, Yuan Liu, Yuju Cao, Jianzhong Wang Tags: ORIGINAL ARTICLE Source Type: research

A novel lncRNA ‐mediated trans‐regulatory mechanism in the development of cleft palate in mouse
ConclusionsOur results revealed thatNONMMUT034790.2might be a novel epigenetic biomarker in CP. The integration of lncRNA modulators intotrans‐regulatory networks will further enhance our understanding of lncRNA functions and regulatory mechanisms during palatal fusion in ATRA‐induced mouse CP. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 12, 2018 Category: Genetics & Stem Cells Authors: Xuan Shu, Shenyou Shu, Hongqiu Cheng Tags: ORIGINAL ARTICLE Source Type: research

Clinical implementation of gene panel testing for lysosomal storage diseases
ConclusionWe show that the implementation of a gene panel for LSD diagnostics results in an increased yield in comparison to classical biochemical testing. As the panel is able to cover a wider range of diseases, we propose to implement this methodology as a first ‐tier test in cases of an aspecific LSD presentation, while enzymatic testing remains the first choice in patients with a more distinctive clinical presentation. Positive panel results should however still be enzymatically confirmed whenever possible. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 11, 2018 Category: Genetics & Stem Cells Authors: Alexander Gheldof, Sara Seneca, Katrien Stouffs, Willy Lissens, Anna Jansen, Hilde Laeremans, Patrick Verloo, An ‐Sofie Schoonjans, Marije Meuwissen, Diana Barca, Geert Martens, Linda De Meirleir Tags: ORIGINAL ARTICLE Source Type: research

Identification of ANLN as a new likely pathogenic gene of branchio ‐otic syndrome in a three‐generation Chinese family
ConclusionIn this study, we identified, for the first time, a heterozygous missense variant inANLN (NM_018685.4: c.G1105A; NP_061155.2: p.G369R) that is likely to be a candidate causative gene of BO syndrome in a specific Chinese family. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 11, 2018 Category: Genetics & Stem Cells Authors: Lisha Deng, Yuanzhen Liu, Wenjun Xia, Jiongjiong Hu, Zhaoxin Ma Tags: ORIGINAL ARTICLE Source Type: research

Identification of a de novo splicing variant in the Coffin –Siris gene, SMARCE1, in a patient with Angelman‐like syndrome
ConclusionsTaking into account the novel finding reported in this study, we consider that CSS should be added to the expanding list of differential diagnoses for AS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 11, 2018 Category: Genetics & Stem Cells Authors: Cinthia Aguilera, Elisabeth Gabau, Steve Laurie, Neus Baena, Sophia Derdak, N úria Capdevila, Ariadna Ramirez, Veronica Delgadillo, Maria Jesus García‐Catalan, Carme Brun, Miriam Guitart, Anna Ruiz Tags: ORIGINAL ARTICLE Source Type: research

Genetic variants in COL11A2 of lumbar disk degeneration among Chinese Han population
We conducted a case –control association study to investigate the role of the COL11A2 gene in LDD. Our results suggest that the rs2071025 G allele plays a minor role in LDD of the Chinese Han population. AbstractBackgroundLumbar disk disease (LDD) is a common musculoskeletal disorder. Several predisposing genetic and environmental risk factors have been established for symptomatic LDD.MethodsWe conducted a case –control association study to investigate the role of theCOL11A2 gene in LDD. Genotyping of 384 Chinese Han LDD patients and 384 Chinese Han controls was made for six single ‐nucleotide polymorphisms (...
Source: Molecular Genetics & Genomic Medicine - December 8, 2018 Category: Genetics & Stem Cells Authors: Xuejun Yang, Haiyu Jia, Wenhua Xing, Feng Li, Manglai Li, Ke Sun, Yong Zhu Tags: ORIGINAL ARTICLE Source Type: research

A regulatory variant in TBX2 promoter is related to the decreased susceptibility of congenital heart disease in the Han Chinese population
ConclusionThe minor C allele of rs4455026 inTBX2 promoter region was related with lower CHD susceptibility in the Han Chinese population via repressing its transcriptional activity. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 7, 2018 Category: Genetics & Stem Cells Authors: Ran ‐ran Zhang, Ke Cai, Lian Liu, Qian Yang, Ping Zhang, Yong‐hao Gui, Feng Wang Tags: ORIGINAL ARTICLE Source Type: research

Lack of association of the IL ‐1RN and IL‐10 polymorphisms with risk of psoriasis: A meta‐analysis
ConclusionCurrent published studies fail to support an association of theIL ‐1RNVNTR polymorphism andIL ‐10 SNPs rs1800896, rs3021097, and rs1800872 with psoriasis risk. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 6, 2018 Category: Genetics & Stem Cells Authors: Ju Qiao, Qian ‐Nan Jia, Hong‐Zhong Jin Tags: ORIGINAL ARTICLE Source Type: research