Biochemical, serological, and genetic aspects related to gene HLA ‐DQB1 and its association with type 1 diabetes mellitus (T1DM)
ConclusionIn Pakistan, there is dire need of studies about SNPs and haplotypes related to HLA ‐DQB1 which show association with T1DM. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 7, 2020 Category: Genetics & Stem Cells Authors: Gur Charn Singh, Mehboob Ahmed, Muhammad Zaid, Shahida Hasnain Tags: ORIGINAL ARTICLE Source Type: research

Delineation of musculocontractural Ehlers –Danlos Syndrome caused by dermatan sulfate epimerase deficiency
ConclusionMcEDS ‐DSE is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS ‐CHST14. However, the burden of symptoms seems lower in patients with mcEDS ‐DSE. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2020 Category: Genetics & Stem Cells Authors: Charlotte K. Lautrup, Keng W. Teik, Ai Unzaki, Shuji Mizumoto, Delfien Syx, Heng H. Sin, Irene K. Nielsen, Sara Markholt, Shuhei Yamada, Fransiska Malfait, Naomichi Matsumoto, Noriko Miyake, Tomoki Kosho Tags: ORIGINAL ARTICLE Source Type: research

SOX2 mediates cisplatin resistance in small ‐cell lung cancer with downregulated expression of hsa‐miR‐340‐5p
ConclusionWe demonstrated that downregulated expression of hsa ‐miR‐340‐5p may affect cisplatin resistance by mediatingSOX2 expression in SCLC cells, which may provide a potential target for the therapy of chemoresistant SCLCs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2020 Category: Genetics & Stem Cells Authors: Fei Cui, Zhe ‐xue Hao, Jin Li, Ya‐lei Zhang, Xu‐kai Li, Jian‐xing He Tags: ORIGINAL ARTICLE Source Type: research

Association of ECE1 gene polymorphisms and essential hypertension risk in the Northern Han Chinese: A case ‒control study
ConclusionThe current case‒control study suggested that several SNPs and related haplotypes on ECE1 gene might be associated with the susceptibility of EH in certain gender subgroups in the Northern Han Chinese population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2020 Category: Genetics & Stem Cells Authors: Hao Wang, Jielin Liu, Kuo Liu, Ya Liu, Jie Wen, Zuoguang Wang, Shaojun Wen Tags: ORIGINAL ARTICLE Source Type: research

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1
ConclusionsAddingNF1 andSPRED1 to RASopathy panels can speed diagnosis and improve patient management, without significantly increasing the burden of inconclusive results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2020 Category: Genetics & Stem Cells Authors: Leora Witkowski, Mitchell W. Dillon, Elissa Murphy, Matthew Lebo, Heather Mason ‐Suares Tags: ORIGINAL ARTICLE Source Type: research

MIR ‐138‐5P inhibits the progression of prostate cancer by targeting FOXC1
ConclusionsCollectively, we showed thatMIR ‐138‐5P functions as a tumor suppressor gene in PCa via targetingFOXC1. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2020 Category: Genetics & Stem Cells Authors: Hui Huang, Ying Xiong, Zhensheng Wu, Yuhui He, Xianglin Gao, Zhangyan Zhou, Tao Wang Tags: ORIGINAL ARTICLE Source Type: research

Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome
ConclusionOur study has advanced the understanding of the genetic architecture of VWS and provides the basis for genetic counseling, antenatal diagnosis, and gene therapy of high risk groups. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2020 Category: Genetics & Stem Cells Authors: Yanqin Yu, Yatao Wan, Chuanqi Qin, Haitang Yue, Zhuan Bian, Miao He Tags: ORIGINAL ARTICLE Source Type: research

Association between CYP2B6 polymorphism and acute leukemia in a Han population of Northwest China
ConclusionOur findings show a strong correlation of theCYP2B6 c.516G>T polymorphism in the Han population of Northwest China with AL, especially fusion gene ‐positive AL, and indicate a poor prognosis after the first course of chemotherapy. Our findings also implicate the T allele in AL susceptibility and indicate the existence of racial and geographical differences in allele frequencies ofCYP2B6 c.516G>T polymorphism. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2020 Category: Genetics & Stem Cells Authors: Li ‐Li Yu, Wei Zhang, Juan Li, Li Zhao Tags: ORIGINAL ARTICLE Source Type: research

Plasma ‐based microRNA signatures in early diagnosis of breast cancer
ConclusionsThe expression levels of the miR ‐23a‐3p, miR‐130a‐5p, miR‐144‐3p, miR‐148a‐3p, and miR‐152‐3p were lower in patients with BC compared to healthy controls and were associated with ex hormone receptor, clinical stage, and lymph node metastasis, indicating the diagnostic potential of these miRNAs in BC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2020 Category: Genetics & Stem Cells Authors: Xu Li, Wenjing Zou, Yuzhen Wang, Zijun Liao, Lina Li, Yang Zhai, Lingxiao Zhang, Shanzhi Gu, Xinhan Zhao Tags: ORIGINAL ARTICLE Source Type: research

Nonsense suppression induced readthrough of a novel PAX6 mutation in patient ‐derived cells of congenital aniridia
ConclusionOur data expanded the genetic and phenotypic variations of congenital aniridia, and showed the therapeutic effect of nonsense suppression on this disease using patient ‐derived cells. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2020 Category: Genetics & Stem Cells Authors: Xiaoliang Liu, Yuanyuan Zhang, Bijun Zhang, Haiming Gao, Chuang Qiu Tags: ORIGINAL ARTICLE Source Type: research

LncRNA XIST modulates HIF ‐1A/AXL signaling pathway by inhibiting miR‐93‐5p in colorectal cancer
ConclusionIn summary, the above results indicate thatXIST promotes colorectal cancer tumorigenesis by regulating miR ‐93‐5p/HIF ‐1A/AXL signaling pathway, which will supply a novel perspective to diagnose and treat colorectal cancer disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Li ‐guang Yang, Ming‐zheng Cao, Jie Zhang, Xiao‐yan Li, Qin‐li Sun Tags: ORIGINAL ARTICLE Source Type: research

The co ‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis
ConclusionBeing able to delineate multiple diagnoses using proteolytic analysis from a single DBS provides support for implementation of this methodology for clinical diagnostic use as well as large ‐scale population screening, such as newborn screening (NBS). This could allow for early identification and treatment of affected individuals with WD or XLA, which have been shown to reduce morbidity and decrease mortality in these two populations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Sheri A. Poskanzer, Jenny Thies, Christopher J. Collins, Candace T. Myers, Remwilyn Dayuha, Phi Duong, Fan Yi, Irene J. Chang, Hans D. Ochs, Troy R. Torgerson, Si Houn Hahn Tags: CLINICAL REPORT Source Type: research

Role of Helicobacter pylori infection in the manifestation of old age ‐related diseases
Helicobacter pylori is one of the most prevalent infection worldwide. It affects individuals of different age groups. Aging ‐associated risk factors should be considered. Future studies, related to aging andH. pylori infection with extragastric disease can help to provide vivid evidences. AbstractHelicobacter pylori is one of the most prevalent infection worldwide. It affects individuals of different age groups. Elderly people tend to resist eradication treatment and worsening of infection can lead to several gastric and non ‐gastric pathologies. Aging‐associated cellular and molecular alteration can increase the ris...
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Abolfazl Zendehdel, Maryam Roham Tags: REVIEW ARTICLE Source Type: research

Investigation of intermediate CAG alleles of the HTT in the general population of Rio de Janeiro, Brazil, in comparison with a sample of Huntington disease ‐affected families
ConclusionThe genetic profiles of the IAs obtained from GP and AS were rather similar. It is important to investigate the frequencies of the IAs because expansions arise from a step ‐by‐step mechanism in which, during intergenerational transmission, large normal alleles can generate IAs, which are then responsible for generating de novo HD mutations. The genetic investigation of IAs in the GP was also important because it was focused on the population of Rio de Janeiro, an understudied group. CCG7 was the most frequent CCG allele in linkage disequilibrium with normal, intermediate, and expanded CAG alleles, similar to ...
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Thays A. Apolin ário, Iane dos Santos Silva, Luciana de Andrade Agostinho, Carmen L. A. Paiva Tags: ORIGINAL ARTICLE Source Type: research

Analyses of del(GJB6 ‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families
ConclusionThis study represents the largest US cohort of deaf individuals harboringGJB2 andGJB6 variants, including unique subsets of families with deaf parents. Testing additional members to clarify the phase of GJB2/GJB6 variants in multiplex families was crucial in interpreting clinical significance of the variants in the proband. It highlights the importance of determining the phase ofGJB2/GJB6 variants when interpreting molecular test results especially in multiplex families with assortative mating. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Arti Pandya, Alexander O'Brien, Michael Kovasala, Guney Bademci, Mustafa Tekin, Kathleen S. Arnos Tags: ORIGINAL ARTICLE Source Type: research

Analyzing false ‐negative results detected in low‐risk non‐invasive prenatal screening cases
ConclusionOur results revealed that mosaicism contributes to a major cause of false negative in NIPS, and highlighted the importance of ultrasound in identifying these false ‐negative results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Ying Lin, Dong Liang, Yan Wang, Hang Li, An Liu, Ping Hu, Zhengfeng Xu Tags: ORIGINAL ARTICLE Source Type: research

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases
ConclusionOur results suggest that the combination of altered expression of genes involved in signaling pathways of immune response and apoptosis control may contribute directly to the main characteristics observed in BS, such as recurrent infections, growth failure, and high risk of cancer. Transcriptome studies of other instability syndromes could allow a more accurate analysis of the relevant gene interactions associated with the destabilization of the genome. This is a first description of the profile of differential gene expression related to immunological aspects detected in patients with BS by RNA ‐seq. (Source: M...
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Marilia M. Montenegro, Caio R. Quaio, Patricia Palmeira, Yanca Gasparini, Andreia Rangel ‐Santos, Julian Damasceno, Estela M. Novak, Thamires M. Gimenez, Guilherme L. Yamamoto, Rachel S. Ronjo, Gil M. Novo‐Filho, Samar N. Chehimi, Evelin A Tags: CLINICAL REPORT Source Type: research

MicroRNA ‐150 serves as a diagnostic biomarker and is involved in the inflammatory pathogenesis of Parkinson's disease
ConclusionAll the data of this study revealed that the decreased serum miR ‐150 serves as a potential diagnostic biomarker. The methods to increase miR‐150 expression may have a beneficial effect in PD via suppressing the neuroinflammation by targeting AKT3. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Haiting Li, Ling Yu, Min Li, Xiaohui Chen, Qun Tian, Yanyan Jiang, Nan Li Tags: ORIGINAL ARTICLE Source Type: research

LncRNA NEAT1/miR ‐185‐5p/IGF2 axis regulates the invasion and migration of colon cancer
ConclusionNEAT1 upregulateIGF2 expression through absorbing miR ‐185‐5p to enhances the migration and invasion of colon cancer cells. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Shu ‐tong Zhuang, Yan‐juan Cai, Hong‐peng Liu, Ying Qin, Jian‐feng Wen Tags: ORIGINAL ARTICLE Source Type: research

Waist circumference increases risk of coronary heart disease: Evidence from a Mendelian randomization study
ConclusionOur analysis provided strong evidence to indicate a causal relationship between WC and increased risk of CHD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Qinchang Chen, Lingling Li, Junzhe Yi, Kai Huang, Runnan Shen, Ridong Wu, Chen Yao Tags: ORIGINAL ARTICLE Source Type: research

18q12.3 ‐q21.1 microdeletion detected in the prenatally alcohol‐exposed dizygotic twin with discordant fetal alcohol syndrome phenotype
ConclusionsThe microdeletion emphasizes the importance of adequate chromosomal testing in examining the etiology of complex alcohol ‐induced developmental disorders. Furthermore, the genotype‐specific decreased DNA methylation at theIGF2/H19 locus cannot be considered as a biological mark for PAE in adult WBCs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Hanna Kahila, Heidi Marjonen, Pauliina Auvinen, Kristiina Avela, Raili Riikonen, Nina Kaminen ‐Ahola Tags: ORIGINAL ARTICLE Source Type: research

Analysis of protein missense alterations by combining sequence ‐ and structure‐based methods
ConclusionCombining different computational approaches including some that were not developed to investigate missense variants help to predict the possible impact of the amino acid substitutions. Yet, when the modified residues are involved in a salt ‐bridge, the tools tend to fail, even when the analysis is performed in 3D. Thus, interactive structural analysis with molecular graphics packages such as Chimera or PyMol or others are still needed to clarify automatic prediction. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Aram Gyulkhandanyan, Alireza R. Rezaie, Lubka Roumenina, Nathalie Lagarde, Veronique Fremeaux ‐Bacchi, Maria A. Miteva, Bruno O. Villoutreix Tags: ORIGINAL ARTICLE Source Type: research

Expanding the spectrum of SMAD3 ‐related phenotypes to agnathia‐otocephaly
ConclusionAgnathia ‐otocephaly with or without associated anomalies may represent the severe end of a phenotypic spectrum related to variants in genes in the interacting SMAD/TGFB/BMP/SHH/FGF developmental pathways. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Nicole Meier, Elisabeth Bruder, Peter Miny, Sevgi Tercanli, Isabel Filges Tags: CLINICAL REPORT Source Type: research

Genetic and clinical findings of panel ‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa
ConclusionPanel ‐based targeted exome sequencing revealed 23 novel mutations, recognized different combinations forms of variants, and extended the mutational spectrum of retinitis pigmentosa and depicted common variants in northeast China. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Yan Sun, Wei Li, Jian ‐kang Li, Zhuo‐shi Wang, Jin‐yue Bai, Ling Xu, Bo Xing, Wen Yang, Zi‐wei Wang, Lu‐sheng Wang, Wei He, Fang Chen Tags: ORIGINAL ARTICLE Source Type: research

The relaxin family peptide receptor 1 (RXFP1): An emerging player in human health and disease
ConclusionsUnderstanding the molecular mechanisms that drive aberrant expression of RXFP1 in disease and the functional roles of alternative splicing and receptor dimerization will provide insight into therapeutic targets that may restore the relaxin responsiveness of fibrotic tissues. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Ting ‐Yun Chen, Xiaoyun Li, Ching‐Hsia Hung, Harinath Bahudhanapati, Jiangning Tan, Daniel J. Kass, Yingze Zhang Tags: REVIEW ARTICLE Source Type: research

Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis
ConclusionAssociating WES technique with online prediction algorithms may allow the recognition of genetic mutations potentially responsible for otherwise unexplained deaths. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Martina Modena, Vincenzo Castiglione, Paolo Aretini, Chiara M. Mazzanti, Enrica Chiti, Alberto Giannoni, Michele Emdin, Marco Di Paolo Tags: CLINICAL REPORT Source Type: research

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S
ConclusionOur data indicate that the p.V876E mutation inCACNA1S contributes to the early onset of neuromuscular symptoms and unusual clinical phenotypes of HypoPP. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Mari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, Vlad Tocan, Noriko Ohyama, Naoko Toda, Kanako Ishii, Kei Nishiyama, Yuichi Mushimoto, Ryuichi Sakamoto, Maki Nakaza, Riho Horie, Tomoya Kubota, Masanori P. Takahashi, Yasunari Sakai, Masatoshi Tags: ORIGINAL ARTICLE Source Type: research

Bilateral aniridia and congenital ureteral valve: Role of genetic testing
ConclusionThe genitourinary risks potentially associated with aniridia necessitate prompt genetic analysis to evaluate for WAGR syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 15, 2020 Category: Genetics & Stem Cells Authors: Lisa B. E. Shields, Dennis S. Peppas, Eran Rosenberg Tags: CLINICAL REPORT Source Type: research

Defining language disorders in children and adolescents with Noonan Syndrome
ConclusionOur study expands present knowledge about the language profile in NS, and provides data that could enable more effective patient management and appropriate intervention. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 15, 2020 Category: Genetics & Stem Cells Authors: Giulia Lazzaro, Cristina Caciolo, Deny Menghini, Francesca Cumbo, Maria C. Digilio, Rossella Capolino, Giuseppe Zampino, Marco Tartaglia, Stefano Vicari, Paolo Alfieri Tags: ORIGINAL ARTICLE Source Type: research

Identification of two compound heterozygous VPS13A large deletions in chorea ‐acanthocytosis only by protein and quantitative DNA analysis
ConclusionOur case demonstrates the need to carry out detection of chorein in patients suspected of having ChAc as a helpful and potentially decisive tool to establish diagnosis. Furthermore, the course of the molecular analysis in this case discloses diagnostic pitfalls in detecting some variations, such as deletions, using only standard genomic DNA (gDNA) Sanger sequencing approaches and exemplifies alternative methods, such as RNA/cDNA sequencing or qRT ‐PCR analysis, necessary to avoid false negative results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 14, 2020 Category: Genetics & Stem Cells Authors: Derek Spieler, Antonio Velayos ‐Baeza, Alžbeta Mühlbäck, Florian Castrop, Christian Maegerlein, Julia Slotta‐Huspenina, Benedikt Bader, Bernhard Haslinger, Adrian Danek Tags: ORIGINAL ARTICLE Source Type: research

Novel loss ‐of‐function mutation in MCM8 causes premature ovarian insufficiency
ConclusionWe identified a novel homozygous frameshift mutation in theMCM8 gene in two affected sisters with POI, and functional analysis revealed that this mutation is pathogenic. Our findings enrich theMCM8 mutation spectrum and might help clinicians to make a precise diagnosis, thereby allowing better family planning and genetic counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 13, 2020 Category: Genetics & Stem Cells Authors: Ya ‐Xin Zhang, Wen‐Bin He, Wen‐Juan Xiao, Lan‐Lan Meng, Chen Tan, Juan Du, Guang‐Xiu Lu, Ge Lin, Yue‐Qiu Tan Tags: ORIGINAL ARTICLE Source Type: research

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency
ConclusionThe obtained results confirm genotype ‒phenotype correlation in MSD, expand the spectrum of clinical presentation and are relevant for diagnosis including the extremely rare neonatal severe type of MSD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 13, 2020 Category: Genetics & Stem Cells Authors: Orna Staretz ‐Chacham, Lars Schlotawa, Ohad Wormser, Inbal Golan‐Tripto, Ohad S. Birk, Carlos R. Ferreira, Thomas Dierks, Karthikeyan Radhakrishnan Tags: ORIGINAL ARTICLE Source Type: research

Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness
ConclusionOur results expanded the mutation spectrum and genotype ‒phenotype correlation of nonsyndromic hearing loss in Chinese Hans and also emphasized the importance of combining both next‐generation sequencing and detailed auditory evaluation to achieve a more accurate diagnosis for nonsyndromic hearing loss. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 13, 2020 Category: Genetics & Stem Cells Authors: Di Wu, Weiyuan Huang, Zhenhang Xu, Shuo Li, Jie Zhang, Xiaohua Chen, Yan Tang, Jinhong Qiu, Zhixia Wang, Xuchu Duan, Luping Zhang Tags: CLINICAL REPORT Source Type: research

Potential biomarkers screening to predict side effects of dexamethasone in different cancers
ConclusionsWARS1 andCDC25A might be potential biomarkers for side effects of dexamethasone in lymphoma, andHELZ2 in prostate cancer. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 13, 2020 Category: Genetics & Stem Cells Authors: Da Jiang, Hui Jin, Jing Zuo, Yan Kong, Xue Zhang, Qian Dong, Zhihong Xu, Ying Li Tags: ORIGINAL ARTICLE Source Type: research

Evaluation of allelic alterations in short tandem repeats in papillary thyroid cancer
ConclusionOur results suggest that great care should be taken in the evaluation of DNA typing results obtained from malignant tissues, particularly when no normal tissue reference samples are available. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 11, 2020 Category: Genetics & Stem Cells Authors: Zhen Dang, Lu Li, Xia Kong, Guoan Zhang, Qi Liu, Haibin Li, Liang Li, Renya Zhang, Wen Cui, Yequan Wang Tags: ORIGINAL ARTICLE Source Type: research

Cover
The cover image is based on the Original ArticleLessons learned from expanded reproductive carrier screening in self ‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients by Gidon Akler et al.,https://doi.org/10.1002/mgg3.1053. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 11, 2020 Category: Genetics & Stem Cells Authors: Gidon Akler, Ashley H. Birch, Nicole Schreiber ‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. W Tags: COVER Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 8, Issue 2, February 2020. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 11, 2020 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Global research on Fabry's disease: Demands for a rare disease
ConclusionsOverall, there is a need to foster FD research infrastructure in developing and emerging countries with focus on cost ‐intensive genetic research that is independent from economic interests of big pharmaceutical companies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 11, 2020 Category: Genetics & Stem Cells Authors: Doris Klingelh öfer, Markus Braun, Rebekka K. Seeger‐Zybok, David Quarcoo, Dörthe Brüggmann, David A. Groneberg Tags: ORIGINAL ARTICLE Source Type: research

Modifier genes in SCN1A ‐related epilepsy syndromes
Relatively common variants in epilepsy genes may play a large role in modulatingSCN1A‐related phenotypes. They may modify the phenotypes of both severely and mildly affected patients. AbstractBackgroundSCN1A is one of the most important epilepsy ‐related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity. Different modifying factors have been hypothesized to influenceSCN1A‐related phenotypes. We investigate the presence of rare and more common variants in epilepsy‐related genes as potential modifiers ofSCN1A‐related disease severity.Methods87 patients withSCN1A‐relate...
Source: Molecular Genetics & Genomic Medicine - February 11, 2020 Category: Genetics & Stem Cells Authors: Iris M. de Lange, Flip Mulder, Ruben Slot, Anja C. M. Sonsma, Marjan J. A. Kempen, Isaac J. Nijman, Robert F. Ernst, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman Tags: ORIGINAL ARTICLE Source Type: research

Comprehensive analysis of prognosis ‐related methylated sites in breast carcinoma
ConclusionsWe reported eight CpG sites as potential breast cancer prognosis signatures through comprehensively analyzed gene expression and DNA methylation datasets, and excluding influences of tumor stage and treatment. This should be helpful for breast cancer early diagnosis and treatment. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 11, 2020 Category: Genetics & Stem Cells Authors: Jia Li, Xinzheng Li Tags: ORIGINAL ARTICLE Source Type: research

Novel SMAD3 p.Arg386Thr genetic variant co ‐segregating with thoracic aortic aneurysm and dissection
ConclusionA “variant of uncertain significance” according to the ACMG guidelines has always a scope for reappraisal. Genetic counselling to relatives, and the offering of surveillance service is important to families with aortic aneurysm disease. The report also highlight the potential use of FFPE analysis from deceased relatives to help in the interpretation of variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 6, 2020 Category: Genetics & Stem Cells Authors: Karolina Engstr öm, Farkas Vánky, Malin Rehnberg, Cecilia Trinks, Jon Jonasson, Anna Green, Cecilia Gunnarsson Tags: CLINICAL REPORT Source Type: research

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency
ConclusionIdentification of the exact breakpoints now allows further straightforward molecular genetic testing of potential carriers of the inversion. This study extends the pathogenic variant spectrum of DHPR deficiency and highlights the role of structural variants in recessive metabolic disorders. To our knowledge, this is the first report on a large, canonical (rather than complex) homozygous pathogenic inversion detected by genome sequencing. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 5, 2020 Category: Genetics & Stem Cells Authors: Hardo Lillev äli, Sander Pajusalu, Monica H. Wojcik, Julia Goodrich, Ryan L. Collins, Ülle Murumets, Pille Tammur, Nenad Blau, Kersti Lilleväli, Katrin Õunap Tags: ORIGINAL ARTICLE Source Type: research

Whole exome sequencing establishes diagnosis of Charcot –Marie–Tooth 4J, 1C, and X1 subtypes
ConclusionNovel diagnostic techniques, such as WES, offer the possibility to decipher the cause of CMT subtypes, ending the diagnostic Odyssey of the patients and sparing them from unnecessary and potentially harmful treatments. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 5, 2020 Category: Genetics & Stem Cells Authors: Kleita Michaelidou, Ioannis Tsiverdis, Sophia Erimaki, Dimitra Papadimitriou, Georgios Amoiridis, Alexandros Papadimitriou, Panayiotis Mitsias, Ioannis Zaganas Tags: ORIGINAL ARTICLE Source Type: research

Identification of genes of prognostic value in the ccRCC microenvironment from TCGA database
ConclusionThis study mainly revealed the relationship between the ccRCC microenvironment and prognosis of patients. These results also increase the understanding of how gene expression patterns can impact the prognosis and development of ccRCC by modulating the tumor microenvironment. The results could contribute to the search for ccRCC biomarkers and therapeutic targets. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 5, 2020 Category: Genetics & Stem Cells Authors: Bangbei Wan, Bo Liu, Yuan Huang, Cai Lv Tags: ORIGINAL ARTICLE Source Type: research

Genetic diversity and phylogenetic structure of four Tibeto ‐Burman‐speaking populations in Tibetan‐Yi corridor revealed by insertion/deletion polymorphisms
ConclusionThese 30 loci can be regarded as an efficient genetic tool in forensic individual identification and as a supplementary tool in paternity testing in Dujiangyan Tibetan, Muli Tibetan, Xichang Yi, and Yanyuan Mosuo. The genetic proximity between the four populations in the Tibetan ‐Yi corridor and other populations is strongly correlated with the linguistic origin and geographical distance. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 5, 2020 Category: Genetics & Stem Cells Authors: Xing Zou, Guanglin He, Mengge Wang, Liwen Huo, Xu Chen, Jing Liu, Shouyu Wang, Ziwei Ye, Fei Wang, Zheng Wang, Yiping Hou Tags: ORIGINAL ARTICLE Source Type: research

Population genetic data from 23 autosomal STR loci of Huaxia Platinum system in the Jining Han population
ConclusionThis study demonstrated that 23 autosomal STR loci included in the Huaxia Platinum system are highly polymorphic and suitable for personal forensic identification and paternity testing in this population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 29, 2020 Category: Genetics & Stem Cells Authors: Zhen Dang, Qi Liu, Guoan Zhang, Shuyue Li, Dan Wang, Qianqian Pang, Da Yang, Changzheng Li, Wen Cui, Yequan Wang Tags: ORIGINAL ARTICLE Source Type: research

Unilateral retinocytoma associated with a variant in the RB1 gene
ConclusionsWe report detailed clinical features and genetic analysis of a case with unilateral retinocytoma. Retinocytoma has a wide range of clinical phenotypes; genetic testing is therefore a useful tool for the diagnosis of atypical cases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 29, 2020 Category: Genetics & Stem Cells Authors: Shijing Wu, Xuan Zou, Zixi Sun, Tian Zhu, Xing Wei, Ruifang Sui Tags: CLINICAL REPORT Source Type: research

Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four ‐generation Canadian family
ConclusionThe substantial variability in phenotype and the lower than previously reported penetrance is illustrative of the importance of exploring family variants beyond first ‐degree relatives. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 28, 2020 Category: Genetics & Stem Cells Authors: Matthew Tung, Filip Van Petegem, Samantha Lauson, Ashley Collier, Kathy Hodgkinson, Bridget Fernandez, Sean Connors, Rick Leather, Shubhayan Sanatani, Laura Arbour Tags: ORIGINAL ARTICLE Source Type: research

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four ‐member family and an unrelated boy
ConclusionThis report, along with other recent observations, suggests the hypothesis that the BP region comprised between BP3 and BP5 in chromosome 15q13 is involved in several brain human dysfunctions, including impairment of the language development and, its deletion, may be directly or indirectly responsible for the speech delay and language deficit in the affected individuals. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 28, 2020 Category: Genetics & Stem Cells Authors: Piero Pavone, Martino Ruggieri, Simona D. Marino, Giovanni Corsello, Xena Pappalardo, Agata Polizzi, Enrico Parano, Catia Romano, Silvia Marino, Andrea Domenico Pratic ò, Raffaele Falsaperla Tags: ORIGINAL ARTICLE Source Type: research

A novel interstitial deletion of chromosome 2q21.1 ‐q23.3: Case report and literature review
ConclusionTo the best of our knowledge this is the first report of a de novo interstitial deletion at 2q21.1 –q23.3 in which haploinsufficiency of dose‐sensitive genes is shown to contribute to the patient's phenotype. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 28, 2020 Category: Genetics & Stem Cells Authors: Bader Almuzzaini, Nasser S. Alatwi, Saif Alsaif, Mohammed A. Al Balwi Tags: CLINICAL REPORT Source Type: research