A novel heterozygous HTRA1 mutation is associated with autosomal dominant hereditary cerebral small vessel disease
ConclusionsThe heterozygous mutation HTRA1 S205C causing diminished protease activity is associated with —and could represent a cause of—autosomal dominant hereditary cerebral SVD. Our results also indicate a relationship between HTRA1 and TGF‐β1/Smad signaling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 2, 2020 Category: Genetics & Stem Cells Authors: Zhong ‐ling Zhuo, Lu Cong, Jun Zhang, Xiao‐tao Zhao Tags: ORIGINAL ARTICLE Source Type: research

Ancient dental pulp: Masterpiece tissue for paleomicrobiology
ConclusionsDental pulp with specific tissue is a suitable sample for detection of the blood infection in the past through DNA and protein identification with the correct preparation process, furthermore, it helps to more understand the pathogens of historic diseases and epidemics. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 31, 2020 Category: Genetics & Stem Cells Authors: Ba Hoang Anh Mai, Michel Drancourt, G érard Aboudharam Tags: REVIEW ARTICLE Source Type: research

Sleep patterns and problems among children with 22q11 deletion syndrome
ConclusionsThe findings suggest children with 22q11DS may have a higher risk of experiencing clinical sleep problems, compared to typically developing children. Consideration of additional screening and treatment of sleep disorders in children with 22q11DS is warranted. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 30, 2020 Category: Genetics & Stem Cells Authors: Jill M. Arganbright, Meghan Tracy, Susan Starling Hughes, David G. Ingram Tags: ORIGINAL ARTICLE Source Type: research

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases
ConclusionOur data are in accordance with the only published metanalysis on this topic. To our surprise, the observed incidence of HCU in Europeans was much lower than those described in articles exploring small populations from northern Europe but was similar to the incidence described on the basis of neonatal screening programs. In our opinion, this large dataset analyzed and its population coverage gave us greater precision in the estimation of incidence. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 30, 2020 Category: Genetics & Stem Cells Authors: Giovana R. Weber Hoss, Fernanda Sperb ‐Ludwig, Ida V. D. Schwartz, Henk J. Blom Tags: ORIGINAL ARTICLE Source Type: research

Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene
ConclusionOur findings show that the bioinformatics tool HipSTR is 100% accurate in detecting and assessingAR CAG repeats in infertile men (46,XY) as well as in men with low ‐level mosaicism. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 26, 2020 Category: Genetics & Stem Cells Authors: Maria Santa Rocca, Margherita Ferrarini, Aichi Msaki, Cinzia Vinanzi, Marco Ghezzi, Maurizio De Rocco Ponce, Carlo Foresta, Alberto Ferlin Tags: ORIGINAL ARTICLE Source Type: research

Prevalence of ABCC3 ‐1767G/A polymorphism among patients with antiretroviral‐associated hepatotoxicity
ConclusionABCC3 1767G/A polymorphism was not significantly associated with susceptibility to ARV‐associated hepatotoxicity, although ABCC3 1767AA genotype designated a risk for acquisition of hepatotoxicity and advancement of the disease. Nevirapine usage emerged as an independent risk factor for hepatotoxicity severity. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 26, 2020 Category: Genetics & Stem Cells Authors: HariOm Singh, Sonam Lata, Ranjana Choudhari, Tapan N. Dhole Tags: ORIGINAL ARTICLE Source Type: research

Impact of ultrasonography on identifying noninvasive prenatal screening false ‐negative aneuploidy
ConclusionApplication of NIPS has increased rapidly worldwide and now accounts for a large proportion of prenatal screening tests in China. This study suggests that ISUOG guideline should be followed practically, and structural abnormal ultrasound findings should not be neglected, even when NIPS produces a negative result. Combining NIPS with an ultrasound examination can further reduce the incidence of live births with aneuploidy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 21, 2020 Category: Genetics & Stem Cells Authors: Wei Li, Fanwei Zeng, Baitong Fan, Nan Yu, Jing Wu, Yun Yang, Hui Huang, Sheng ‐li Li, Zhiyu Peng Tags: ORIGINAL ARTICLE Source Type: research

Rapid screening of MMACHC gene mutations by high ‐resolution melting curve analysis
ConclusionThe established PCR ‐HRM method for screening common pathogenicMMACHC variants in Chinese patients with cblC has the advantages of high accuracy, high throughput, low cost, and high speed. It is suitable for the large ‐sample screening of suspected children with methylmalonic acidemia and carriers in population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 21, 2020 Category: Genetics & Stem Cells Authors: Chao Wang, Yang Liu, Fengying Cai, Xinjie Zhang, Xiaowei Xu, Yani Li, Qianqian Zou, Jie Zheng, Yuqin Zhang, Wei Guo, Chunquan Cai, Jianbo Shu Tags: ORIGINAL ARTICLE Source Type: research

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation
ConclusionOur findings add to the phenotypic, genetic, and biochemical spectrum of hyaline fibromatosis syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 21, 2020 Category: Genetics & Stem Cells Authors: Bettina H ärter, Francesco Benedicenti, Daniela Karall, Ekkehard Lausch, Gisela Schweigmann, Franco Stanzial, Andrea Superti‐Furga, Sabine Scholl‐Bürgi Tags: CLINICAL REPORT Source Type: research

Novel compound heterozygous stop ‐gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency
ConclusionThis first report of LRBA deficiency in Vietnam expands our knowledge of the diverse phenotypes and genotypes driving CVID. Finally, the utilization of WES shows great promise as an effective diagnostic for CVID in our setting. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Anh N. L. Phan, Thuy T. T. Pham, Nghia Huynh, Tuan M. Nguyen, Cuc T. T. Cao, Duong T. Nguyen, Duc T. Le, Chi ‐Bao Bui Tags: CLINICAL REPORT Source Type: research

Diagnostic value of whole ‐exome sequencing in Chinese pediatric‐onset neuromuscular patients
ConclusionOur study shows a clear role of WES in the pathway of integrated diagnostic approach to shorten the diagnostic odyssey in patients with rare NMDs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Mandy H. Y. Tsang, Annie T. G. Chiu, Bernard M. H. Kwong, Rui Liang, Mullin H. C. Yu, Kit ‐San Yeung, Wetor H. L. Ho, Christopher C. Y. Mak, Gordon K. C. Leung, Steven L. C. Pei, Jasmine L. F. Fung, Virginia C. N. Wong, Francesco Muntoni, B Tags: ORIGINAL ARTICLE Source Type: research

Forensic features and genetic background exploration of a new 47 ‐autosomal InDel panel in five representative Han populations residing in Northern China
ConclusionOverall, this novel 47 A ‐InDel assay is a valuable tool that could potentially be used for forensic identification and parentage tests. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Feng Song, Min Lang, Luyao Li, Haibo Luo, Yiping Hou Tags: ORIGINAL ARTICLE Source Type: research

Novel heterozygous GATA3 and SLC34A3 variants in a 6 ‐year‐old boy with Barakat syndrome and hypercalciuria
ConclusionThis study provides a special case which is phenotype ‐driven dual diagnoses, and the two novel variants can parsimoniously explain the complex clinical presentations of this patient. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Sha Yu, Wen ‐xia Chen, Wei Lu, Chao Chen, Yihua Ni, Bo Duan, Bin Wang, Huijun Wang, Zheng‐min Xu Tags: ORIGINAL ARTICLE Source Type: research

A preliminary computational outputs versus experimental results: Application of sTRAP, a biophysical tool for the analysis of SNPs of transcription factor ‐binding sites
ConclusionOur preliminary study indicated some paradoxical results between sTRAP and experimental data. However, to link the data of sTRAP to the biological functions, its optimization via experimental procedures with the integration of expanded data and applying several other bioinformatics tools might be required. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Shirin Moradifard, Reza Saghiri, Parastoo Ehsani, Fatemeh Mirkhani, Mina Ebrahimi ‐Rad Tags: CLINICAL REPORT Source Type: research

Molecular characterization of hemophilia B patients in Colombia
ConclusionThis molecular analysis allowed us to establish the causal variant of HB in 100% of patients, to provide the appropriate genetic counseling to each of the families, and to propose a more cost ‐effective carrier analysis. Here, we reported the first variants in Colombian population with Hemophilia B, finding a new variant and one intron recurrent variant present in 35% of patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Yolima A. Parrado Jara, Luz K. Yunis Hazbun, Adriana Linares, Juan J. Yunis Londo ño Tags: ORIGINAL ARTICLE Source Type: research

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing
ConclusionTo our knowledge, this is the first case report of congenital dyserythropoiesis anemia type Ia with genetic diagnosis to be located in Taiwan. Because of the rarity of CDA Ia and the overlapping of the clinical manifestations with other hereditary anemias, the next ‐generation sequencing approach is effective for conclusive diagnosis of CDA Ia. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Pei ‐Chin Lin, Chao‐Neng Cheng, Hsi‐Yuan Huang, Yu‐Hsin Tseng, Ya‐Sian Chang, Chien‐Yu Lin, Jan‐Gowth Chang Tags: ORIGINAL ARTICLE Source Type: research

Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome
ConclusionFor patients with Cockayne syndrome, cardiac changes need to be monitored carefully, especially for cases with splicing mutations of theERCC8 gene. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Shuiyan Wu, Ying Liu, Qian Zhang, Xiangying Meng, Linlin Huang, Zhong Xu, Chunxu Zhang, Ying Li, Ting Chen, Zhenjiang Bai Tags: ORIGINAL ARTICLE Source Type: research

Problems in variation interpretation guidelines and in their implementation in computational tools
ConclusionMethods used for variation interpretation have to be carefully selected. It should be possible to use only one predictor, with proven good performance  or a limited number of complementary predictors with state‐of‐the‐art performance. Bear in mind that diseases and pathogenicity have a continuum and variants are not dichotomic i.e. either pathogenic or benign, either. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Mauno Vihinen Tags: ORIGINAL ARTICLE Source Type: research

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene ‐disease relationship
ConclusionThis case report expended the mutation spectrum ofASCC1 and support the notion that this novel disease also occurs in outbreed populations and this is a rare disease but may still be underdiagnosed due to its perinatal lethal outcomes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Weiliang Lu, Mingxing Liang, Jiasun Su, Jin Wang, Lingxiao Li, Shujie Zhang, Zailong Qin, Limei Huang, Yingchi Lu, Shang Yi, Sheng Yi, BoBo Xie, Haiyang Zheng, Jingsi Luo, Xiaoyan Gao, Yiping Shen Tags: CLINICAL REPORT Source Type: research

Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta
ConclusionGiven the phenotype and genotype consistent with a deficiency in TRAPPC9, it is likely that this patient represents a novel case of this rare genetic syndrome. Specifically, this case, in the context of 48 total reported patients, raises questions as to the geographic origin of the pathologic variant and optimal detection and therapeutic intervention for this condition. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Katelynn M. Wilton, Lauren B. Gunderson, Linda Hasadsri, Christopher P. Wood, Lisa A. Schimmenti Tags: CLINICAL REPORT Source Type: research

Systematic analysis of a mitochondrial disease ‐causing ND6 mutation in mitochondrial deficiency
ConclusionOur data revealed that m.14487T>C mutation is insufficient to cause mitochondrial deficiency; additional modifier genes may be involved in m.14487T>C ‐associated mitochondrial disease. Our results further demonstrated that a caution should be taken by solely use of m.14487T>C mutation for molecular diagnosis of mitochondrial disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Deyu Chen, Qiongya Zhao, Jingting Xiong, Xiaoting Lou, Qinxia Han, Xiujuan Wei, Jie Xie, Xueyun Li, Huaibin Zhou, Lijun Shen, Yanling Yang, Hezhi Fang, Jianxin Lyu Tags: ORIGINAL ARTICLE Source Type: research

Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis
ConclusionConsidering the likely gene ‐disrupting prediction results and similar biological pattern of mechanisms, we propose a joint “multifactorial model” in gastroschisis pathogenesis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: V íctor M. Salinas‐Torres, Hugo L. Gallardo‐Blanco, Rafael A. Salinas‐Torres, Ricardo M. Cerda‐Flores, José J. Lugo‐Trampe, Daniel Z. Villarreal‐Martínez, Marisol Ibarra‐Ramírez, Laura E. Martínez de Villarreal Tags: ORIGINAL ARTICLE Source Type: research

Population genetic analysis of Shaanxi male Han Chinese population reveals genetic differentiation and homogenization of East Asians
ConclusionBoth the geographical and linguistic divisions have shaped the genetic structure of modern East Asian. And more forensic reference data should be obtained for ethnically, culturally, geographically and linguistically different populations for better routine forensic practice and population genetic studies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Luyao Li, Xing Zou, Guanjun Zhang, Hongyan Wang, Yongdong Su, Mengge Wang, Guanglin He Tags: ORIGINAL ARTICLE Source Type: research

Haplotype diversity and phylogenetic characteristics for Guanzhong Han population from Northwest China via 38 Y ‐STRs using Yfiler™ Platinum Amplification System
ConclusionThis study offered a unique insight into Guanzhong Han population, the 38 Y ‐STRs included in the the Yfiler™ Platinum system are highly polymorphic and informative and can be used for forensic practice and human genetic research. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Luyao Li, Lilan Yao, Xin He, Huilin Gong, Yuan Deng, Mei Luan, Guanglin He, Fuquan Jia, Pengyu Chen Tags: ORIGINAL ARTICLE Source Type: research

Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome
ConclusionWe revealed a novel mutation inPAX3 and a de novo mutation inSOX10, which might account for the underlying pathogenesis of WS. This study expands the database of bothPAX10 andPAX3 mutations and improves our understanding of the causes of WS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Yongbo Yu, Wei Liu, Min Chen, Yang Yang, Yeran Yang, Enyu Hong, Jie Lu, Jun Zheng, Xin Ni, Yongli Guo, Jie Zhang Tags: ORIGINAL ARTICLE Source Type: research

Fine ‐mapping of ZDHHC2 identifies risk variants for schizophrenia in the Han Chinese population
ConclusionOur results first show strong supportive evidences of the association between theZDHHC2 and SCZ, and also provide a fine ‐mapping of variants of this gene in Han Chinese SCZ patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Han Zhang, Xiuli Li, Chuanchuan Ma, Ke Wang, Juan Zhou, Jianhua Chen, Yonggang Wang, Yongyong Shi Tags: ORIGINAL ARTICLE Source Type: research

Identification of key genes and pathways of diagnosis and prognosis in cervical cancer by bioinformatics analysis
ConclusionThis study aim to better understand the characteristics of some genes and signaling pathways about cervical cancer by bioinformatics, and could provide further research ideas to find new mechanism, more prognostic factors, and potential therapeutic targets for cervical cancer. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Hua ‐ju Yang, Jin‐min Xue, Jie Li, Ling‐hong Wan, Yu‐xi Zhu Tags: ORIGINAL ARTICLE Source Type: research

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature
ConclusionTherefore, this report brings additional data for the genotype ‐phenotype correlations ofSMAD3 variants and the need to explore in more detail the effects of genetic modifiers that could influence the phenotype. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 10, 2020 Category: Genetics & Stem Cells Authors: Bertrand Chesneau, Thomas Edouard, Yves Dulac, H élène Colineaux, Maud Langeois, Nadine Hanna, Catherine Boileau, Pauline Arnaud, Nicolas Chassaing, Sophie Julia, Guillaume Jondeau, Aurélie Plancke, Philippe Khau Van Kien, Julie Plaisanci Tags: CLINICAL REPORT Source Type: research

Rapid  detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia
ConclusionThe diagnosis of our patient was rapidly confirmed by thehydrops panel. The variant of c.218C>T (p.Thr73Ile) has not yet been described in literature relating to NIHF. Only a few case reports of this variant are known. This particular mutation is associated with Noonan syndrome, congenital heart defect and persistent thrombocytopenia. Few reveal juvenile myelomonocytic leukemia. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 7, 2020 Category: Genetics & Stem Cells Authors: Mascha Sch önfeld, Mareike Selig, Alexandra Russo, Christine Lindner, Christoph Kampmann, Eva Mildenberger, Catharina Whybra Tags: CLINICAL REPORT Source Type: research

Placental endothelial nitric oxide synthase expression and role of oxidative stress in susceptibility to preeclampsia in Pakistani women
Molecular Genetics&Genomic Medicine, Volume 8, Issue 3, March 2020. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 7, 2020 Category: Genetics & Stem Cells Authors: Ghazala Shaheen, Sarwat Jahan, Qurat Ul Ain, Asad Ullah, Tayyaba Afsar, Ali Almajwal, Iftikhar Alam, Suhail Razak Tags: CORRIGENDUM Source Type: research

Cover
The cover image is based on the Original ArticleA novel GJB1 mutation associated with X ‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree by Yingdi Liu et al.,https://doi.org/10.1002/mgg3.1127. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 7, 2020 Category: Genetics & Stem Cells Authors: Yingdi Liu, Jinjie Xue, Zhuo Li, Siyuan Linpeng, Hu Tan, Yanling Teng, Desheng Liang, Lingqian Wu Tags: COVER Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 8, Issue 3, March 2020. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 7, 2020 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Effects of cytochrome P450 oxidoreductase genotypes on the pharmacokinetics of amlodipine in healthy Korean subjects
ConclusionThis study identified a novel SNP of thePOR gene, which affected amlodipine metabolism and may reduce interindividual variation in responses to amlodipine. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 7, 2020 Category: Genetics & Stem Cells Authors: Ji Min Han, Jeong Yee, Jee Eun Chung, Kyung Eun Lee, Kyungsoo Park, Hye Sun Gwak Tags: ORIGINAL ARTICLE Source Type: research

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