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Human Genetics

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https://www.readbyqxmd.com/read/27904971/mutations-in-slc5a6-associated-with-brain-immune-bone-and-intestinal-dysfunction-in-a-young-child
#1
Veedamali S Subramanian, Alexandru R Constantinescu, Paul J Benke, Hamid M Said
The human sodium-dependent multivitamin transporter (hSMVT) is a product of the SLC5A6 gene and mediates biotin, pantothenic acid, and lipoate uptake in a variety of cellular systems. We report here the identification of mutations R94X, a premature termination, and R123L, a dysfunctional amino acid change, both in exon 3 of the SLC5A6 gene in a child using whole genome-scanning. At 15 months of age, the child showed failure to thrive, microcephaly and brain changes on MRI, cerebral palsy and developmental delay, variable immunodeficiency, and severe gastro-esophageal reflux requiring a gastrostomy tube/fundoplication, osteoporosis, and pathologic bone fractures...
November 30, 2016: Human Genetics
https://www.readbyqxmd.com/read/27900482/mutations-in-il36rn-are-associated-with-geographic-tongue
#2
Jianying Liang, Peichen Huang, Huaguo Li, Jia Zhang, Cheng Ni, Yirong Wang, Jinwen Shen, Chunxiao Li, Lu Kang, Jie Chen, Hui Zhang, Zhen Wang, Zhen Zhang, Ming Li, Zhirong Yao
Geographic tongue (GT) is a benign inflammatory disorder of unknown etiology. Epidemiology and histopathology in previous studies found that generalized pustular psoriasis (GPP) is a factor associated with GT, but the molecular mechanism remains obscure. To investigate the mechanism of GT, with and without GPP, three cohorts were recruited to conduct genotyping of IL36RN, which is the causative gene of GPP. In a family spanning three generations and diagnosed with only GT ("GT alone"), GT was caused by the c...
November 29, 2016: Human Genetics
https://www.readbyqxmd.com/read/27896429/copy-number-variability-in-parkinson-s-disease-assembling-the-puzzle-through-a-systems-biology-approach
#3
REVIEW
Valentina La Cognata, Giovanna Morello, Velia D'Agata, Sebastiano Cavallaro
Parkinson's disease (PD), the second most common progressive neurodegenerative disorder of aging, was long believed to be a non-genetic sporadic origin syndrome. The proof that several genetic loci are responsible for rare Mendelian forms has represented a revolutionary breakthrough, enabling to reveal molecular mechanisms underlying this debilitating still incurable condition. While single nucleotide polymorphisms (SNPs) and small indels constitute the most commonly investigated DNA variations accounting for only a limited number of PD cases, larger genomic molecular rearrangements have emerged as significant PD-causing mutations, including submicroscopic Copy Number Variations (CNVs)...
November 28, 2016: Human Genetics
https://www.readbyqxmd.com/read/27896428/xci-escaping-gene-kdm5c-contributes-to-ovarian-development-via-downregulating-mir-320a
#4
Yi-Xi Sun, Yi-Xin Zhang, Dan Zhang, Chen-Ming Xu, Song-Chang Chen, Jun-Yu Zhang, Ye-Chun Ruan, Feng Chen, Run-Ju Zhang, Ye-Qing Qian, Yi-Feng Liu, Lu-Yang Jin, Tian-Tian Yu, Hai-Yan Xu, Yu-Qin Luo, Xin-Mei Liu, Fei Sun, Jian-Zhong Sheng, He-Feng Huang
Mechanisms underlying female gonadal dysgenesis remain unclarified and relatively unstudied. Whether X-chromosome inactivation (XCI)-escaping genes and microRNAs (miRNAs) contribute to this condition is currently unknown. We compared 45,X Turner Syndrome women with 46,XX normal women, and investigated differentially expressed miRNAs in Turner Syndrome through plasma miRNA sequencing. We found that miR-320a was consistently upregulated not only in 45,X plasma and peripheral blood mononuclear cells (PBMCs), but also in 45,X fetal gonadal tissues...
November 28, 2016: Human Genetics
https://www.readbyqxmd.com/read/27878435/novel-phenotypes-and-loci-identified-through-clinical-genomics-approaches-to-pediatric-cataract
#5
Nisha Patel, Deepti Anand, Dorota Monies, Sateesh Maddirevula, Arif O Khan, Talal Algoufi, Mohammed Alowain, Eissa Faqeih, Muneera Alshammari, Ahmed Qudair, Hadeel Alsharif, Fatimah Aljubran, Hessa S Alsaif, Niema Ibrahim, Firdous M Abdulwahab, Mais Hashem, Haifa Alsedairy, Mohammed A Aldahmesh, Salil A Lachke, Fowzan S Alkuraya
Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing on unselected cohort of pediatric cataract (166 patients from 74 families). Mutations in previously reported cataract genes were identified in 58% for a total of 43 mutations, including 15 that are novel. GEMIN4 was independently mutated in families with a syndrome of cataract, global developmental delay with or without renal involvement...
November 22, 2016: Human Genetics
https://www.readbyqxmd.com/read/27878434/regional-selection-of-the-brain-size-regulating-gene-casc5-provides-new-insight-into-human-brain-evolution
#6
Lei Shi, Enzhi Hu, Zhenbo Wang, Jiewei Liu, Jin Li, Ming Li, Hua Chen, Chunshui Yu, Tianzi Jiang, Bing Su
Human evolution is marked by a continued enlargement of the brain. Previous studies on human brain evolution focused on identifying sequence divergences of brain size regulating genes between humans and nonhuman primates. However, the evolutionary pattern of the brain size regulating genes during recent human evolution is largely unknown. We conducted a comprehensive analysis of the brain size regulating gene CASC5 and found that in recent human evolution, CASC5 has accumulated many modern human specific amino acid changes, including two fixed changes and six polymorphic changes...
November 22, 2016: Human Genetics
https://www.readbyqxmd.com/read/27848077/identification-of-new-trip12-variants-and-detailed-clinical-evaluation-of-individuals-with-non-syndromic-intellectual-disability-with-or-without-autism
#7
Nuria C Bramswig, H-J Lüdecke, M Pettersson, B Albrecht, R A Bernier, K Cremer, E E Eichler, D Falkenstein, J Gerdts, S Jansen, A Kuechler, M Kvarnung, A Lindstrand, D Nilsson, A Nordgren, R Pfundt, L Spruijt, H M Surowy, B B A de Vries, T Wieland, H Engels, T M Strom, T Kleefstra, D Wieczorek
The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting. It is crucial for many physiological processes. Compromised function of members of the ubiquitin pathway leads to a wide range of human diseases, such as cancer, neurodegenerative diseases, and neurodevelopmental disorders. Mutations in the thyroid hormone receptor interactor 12 (TRIP12) gene (OMIM 604506), which encodes an E3 ligase in the ubiquitin pathway, have been associated with autism spectrum disorder (ASD)...
November 15, 2016: Human Genetics
https://www.readbyqxmd.com/read/27848076/identifying-gene-gene-interactions-that-are-highly-associated-with-four-quantitative-lipid-traits-across-multiple-cohorts
#8
Rishika De, Shefali S Verma, Emily Holzinger, Molly Hall, Amber Burt, David S Carrell, David R Crosslin, Gail P Jarvik, Helena Kuivaniemi, Iftikhar J Kullo, Leslie A Lange, Matthew B Lanktree, Eric B Larson, Kari E North, Alex P Reiner, Vinicius Tragante, Gerard Tromp, James G Wilson, Folkert W Asselbergs, Fotios Drenos, Jason H Moore, Marylyn D Ritchie, Brendan Keating, Diane Gilbert-Diamond
Genetic loci explain only 25-30 % of the heritability observed in plasma lipid traits. Epistasis, or gene-gene interactions may contribute to a portion of this missing heritability. Using the genetic data from five NHLBI cohorts of 24,837 individuals, we combined the use of the quantitative multifactor dimensionality reduction (QMDR) algorithm with two SNP-filtering methods to exhaustively search for SNP-SNP interactions that are associated with HDL cholesterol (HDL-C), LDL cholesterol (LDL-C), total cholesterol (TC) and triglycerides (TG)...
November 15, 2016: Human Genetics
https://www.readbyqxmd.com/read/27848075/recorded-interviews-with-human-and-medical-geneticists
#9
Peter S Harper
A series of 100 recorded interviews with human and medical geneticists has been carried out and some general results are reported here. Twenty countries across the world are represented, mostly European, with a particular emphasis on the United Kingdom. A priority was given to older workers, many of whom were key founders of human genetics in their own countries and areas of work, and over 20 of whom are now no longer living. The interviews also give valuable information on the previous generation of workers, as teachers and mentors of the interviewees, thus extending the coverage of human genetics back to the 1930s or even earlier...
November 15, 2016: Human Genetics
https://www.readbyqxmd.com/read/27844144/identification-and-functional-characterisation-of-genetic-variants-in-olfm2-in-children-with-developmental-eye-disorders
#10
R Holt, S A Ugur Iseri, A W Wyatt, D A Bax, D Gold Diaz, C Santos, S Broadgate, R Dunn, J Bruty, Y Wallis, D McMullan, C Ogilvie, D Gerrelli, Y Zhang, Nicola Ragge
Anophthalmia, microphthalmia, and coloboma are a genetically heterogeneous spectrum of developmental eye disorders and affect around 30 per 100,000 live births. OLFM2 encodes a secreted glycoprotein belonging to the noelin family of olfactomedin domain-containing proteins that modulate the timing of neuronal differentiation during development. OLFM2 SNPs have been associated with open angle glaucoma in a case-control study, and knockdown of Olfm2 in zebrafish results in reduced eye size. From a cohort of 258 individuals with developmental eye anomalies, we identified two with heterozygous variants in OLFM2: an individual with bilateral microphthalmia carrying a de novo 19p13...
November 14, 2016: Human Genetics
https://www.readbyqxmd.com/read/27838790/a-common-variant-in-cldn14-causes-precipitous-prelingual-sensorineural-hearing-loss-in-multiple-families-due-to-founder-effect
#11
Justin A Pater, Tammy Benteau, Anne Griffin, Cindy Penney, Susan G Stanton, Sarah Predham, Bernadine Kielley, Jessica Squires, Jiayi Zhou, Quan Li, Nelly Abdelfatah, Darren D O'Rielly, Terry-Lynn Young
Genetic isolates provide unprecedented opportunities to identify pathogenic mutations and explore the full natural history of clinically heterogeneous phenotypes such as hearing loss. We noticed a unique audioprofile, characterized by prelingual and rapid deterioration of hearing thresholds at frequencies >0.5 kHz in several adults from unrelated families from the island population of Newfoundland. Targeted serial Sanger sequencing of probands for deafness alleles (n = 23) that we previously identified in this founder population was negative...
November 12, 2016: Human Genetics
https://www.readbyqxmd.com/read/27838789/kdf1-encoding-keratinocyte-differentiation-factor-1-is-mutated-in-a-multigenerational-family-with-ectodermal-dysplasia
#12
Hanan E Shamseldin, Ola Khalifa, Yousef M Binamer, Abdulmonem Almutawa, Stefan T Arold, Hamad Zaidan, Fowzan S Alkuraya
Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia disease genes through a regulatory network that maintains the balance between proliferation and differentiation of the epidermis and other ectodermal derivatives. The ectodermal knockout phenotype of five mouse genes that regulate and/or are regulated by TP63 (Irf6, Ikkα, Ripk4, Stratifin, and Kdf1) is strikingly similar and involves abnormal balance towards proliferation at the expense of differentiation, but only the first three have corresponding ectodermal phenotypes in humans...
November 12, 2016: Human Genetics
https://www.readbyqxmd.com/read/27837350/complete-mitochondrial-genomes-of-thai-and-lao-populations-indicate-an-ancient-origin-of-austroasiatic-groups-and-demic-diffusion-in-the-spread-of-tai-kadai-languages
#13
Wibhu Kutanan, Jatupol Kampuansai, Metawee Srikummool, Daoroong Kangwanpong, Silvia Ghirotto, Andrea Brunelli, Mark Stoneking
The Tai-Kadai (TK) language family is thought to have originated in southern China and spread to Thailand and Laos, but it is not clear if TK languages spread by demic diffusion (i.e., a migration of people from southern China) or by cultural diffusion, with native Austroasiatic (AA) speakers switching to TK languages. To address this and other questions, we obtained 1234 complete mtDNA genome sequences from 51 TK and AA groups from Thailand and Laos. We find high genetic heterogeneity across the region, with 212 different haplogroups, and significant genetic differentiation among different samples from the same ethnolinguistic group...
November 11, 2016: Human Genetics
https://www.readbyqxmd.com/read/27817057/the-y-chromosome-as-the-most-popular-marker-in-genetic-genealogy-benefits-interdisciplinary-research
#14
REVIEW
Francesc Calafell, Maarten H D Larmuseau
The Y chromosome is currently by far the most popular marker in genetic genealogy that combines genetic data and family history. This popularity is based on its haploid character and its close association with the patrilineage and paternal inherited surname. Other markers have not been found (yet) to overrule this status due to the low sensitivity and precision of autosomal DNA for genetic genealogical applications, given the vagaries of recombination, and the lower capacities of mitochondrial DNA combined with an in general much lower interest in maternal lineages...
November 5, 2016: Human Genetics
https://www.readbyqxmd.com/read/27807677/crispr-cas9-in-zebrafish-an-efficient-combination-for-human-genetic-diseases-modeling
#15
REVIEW
Jiaqi Liu, Yangzhong Zhou, Xiaolong Qi, Jia Chen, Weisheng Chen, Guixing Qiu, Zhihong Wu, Nan Wu
The next-generation sequencing identifies a growing number of candidate genes associated with human genetic diseases, which inevitably requires efficient methods to validate the causal links between genotype and phenotype. Recently, zebrafish, with sufficiently high-throughput capabilities, has become a favored option to study human pathogenesis. In addition, CRISPR/Cas9-based approaches have radically reduced the efforts to introduce targeted genome engineering in various organisms. Here, we systemically review the basic considerations in the design of gene editing in zebrafish with CRISPR/Cas9, and explore the potential of the combination of these two to support efficient functional analysis of human genetic variants...
November 2, 2016: Human Genetics
https://www.readbyqxmd.com/read/27752767/genetic-factor-common-to-schizophrenia-and-hiv-infection-is-associated-with-risky-sexual-behavior-antagonistic-vs-synergistic-pleiotropic-snps-enriched-for-distinctly-different-biological-functions
#16
Qian Wang, Renato Polimanti, Henry R Kranzler, Lindsay A Farrer, Hongyu Zhao, Joel Gelernter
Schizophrenia (SZ) and HIV infection are serious disorders with a complex phenotypic relationship. Observational studies have described their comorbidity; their genetic correlation is not well studied. We performed extensive analysis in search of common genetic factors for SZ and HIV, and their relationship with risky sexual behavior (RSB). Summary statistics from genome-wide association studies of HIV infection and schizophrenia were obtained and 2379 European Americans were genotyped and assessed for RSB score...
October 17, 2016: Human Genetics
https://www.readbyqxmd.com/read/27726012/preferential-use-of-minor-codons-in-the-translation-initiation-region-of-human-genes
#17
Jung-Ho Park, Munjin Kwon, Yoshihiro Yamaguchi, Bonnie L Firestein, Ji-Young Park, Jieun Yun, Jeong-Ook Yang, Masayori Inouye
More than 31,000 protein-coding sequences (CCDS) have been identified in the human genome. Here, we analyzed codon usage in all human CCDS and found that there is a preferential usage of minor codons for Ala (CGC), Pro (CCG), Ser (UCG), and Thr (ACG) in the initial 50-codon sequences of the CCDS. These codons, with consensus XCG sequences, are most infrequently used among their synonymous codons. Thus, the tRNA concentrations per codon are considered to be highest for the minor codons for Ala, Pro, Ser and Thr in comparison with other synonymous codons for each of them to enhance the translation efficiency...
October 11, 2016: Human Genetics
https://www.readbyqxmd.com/read/27704213/network-analysis-of-mitonuclear-gwas-reveals-functional-networks-and-tissue-expression-profiles-of-disease-associated-genes
#18
Simon C Johnson, Brenda Gonzalez, Quanwei Zhang, Brandon Milholland, Zhengdong Zhang, Yousin Suh
While mitochondria have been linked to many human diseases through genetic association and functional studies, the precise role of mitochondria in specific pathologies, such as cardiovascular, neurodegenerative, and metabolic diseases, is often unclear. Here, we take advantage of the catalog of human genome-wide associations, whole-genome tissue expression and expression quantitative trait loci datasets, and annotated mitochondrial proteome databases to examine the role of common genetic variation in mitonuclear genes in human disease...
October 4, 2016: Human Genetics
https://www.readbyqxmd.com/read/27699474/atlas-of-human-diseases-influenced-by-genetic-variants-with-extreme-allele-frequency-differences
#19
Arvis Sulovari, Yolanda H Chen, James J Hudziak, Dawei Li
Genetic variants with extreme allele frequency differences (EAFD) may underlie some human health disparities across populations. To identify EAFD loci, we systematically analyzed and characterized 81 million genomic variants from 2504 unrelated individuals of 26 world populations (phase III of the 1000 Genomes Project). Our analyses revealed a total of 434 genes, 15 pathways, and 18 diseases and traits influenced by EAFD variants from five continental populations. They included known EAFD genes, such as LCT (lactose tolerance), SLC24A5 (skin pigmentation), and EDAR (hair morphology)...
October 3, 2016: Human Genetics
https://www.readbyqxmd.com/read/27699475/tooth-agenesis-and-orofacial-clefting-genetic-brothers-in-arms
#20
M Phan, F Conte, K D Khandelwal, C W Ockeloen, T Bartzela, T Kleefstra, H van Bokhoven, M Rubini, H Zhou, C E L Carels
Tooth agenesis and orofacial clefts represent the most common developmental anomalies and their co-occurrence is often reported in patients as well in animal models. The aim of the present systematic review is to thoroughly investigate the current literature (PubMed, EMBASE) to identify the genes and genomic loci contributing to syndromic or non-syndromic co-occurrence of tooth agenesis and orofacial clefts, to gain insight into the molecular mechanisms underlying their dual involvement in the development of teeth and facial primordia...
December 2016: Human Genetics
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