The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.

abstract：:Polyglutamine expansion in certain proteins causes neurodegeneration in inherited disorders such as Huntington disease and X-linked spinobulbar muscular atrophy. Polyglutamine tracts promote protein aggregation in vitro and in vivo with a strict length-dependence that strongly implicates alternative protein folding an...

journal_title：Human molecular genetics

authors： Desai UA,Pallos J,Ma AA,Stockwell BR,Thompson LM,Marsh JL,Diamond MI

更新日期：2006-07-01 00:00:00

abstract：:Bitter taste perception is initiated by TAS2R receptors, which respond to agonists by triggering depolarization of taste bud cells. Mutations in TAS2Rs are known to affect taste phenotypes by altering receptor function. Evidence that TAS2Rs overlap in ligand specificity suggests that they may also contribute joint eff...

journal_title：Human molecular genetics

authors： Roudnitzky N,Bufe B,Thalmann S,Kuhn C,Gunn HC,Xing C,Crider BP,Behrens M,Meyerhof W,Wooding SP

更新日期：2011-09-01 00:00:00

abstract：:The gene responsible for Huntington disease has been localized to a 2.5 million base pair (Mb) region between the loci D4S10 and D4S168 on the short arm of chromosome 4. As part of a strategy to clone the HD gene on the basis of its chromosomal location, we isolated genomic DNA from the HD region as a set of overlappi...

journal_title：Human molecular genetics

authors： Zuo J,Robbins C,Taillon-Miller P,Cox DR,Myers RM

更新日期：1992-06-01 00:00:00

abstract：:The development of small animal models is of major interest to unravel the pathogenesis and treatment of neurodegenerative diseases, especially because of their potential in large-scale chemical and genetic screening. We have investigated the zebrafish as a model to study amyotrophic lateral sclerosis (ALS), a fatal n...

journal_title：Human molecular genetics

authors： Lemmens R,Van Hoecke A,Hersmus N,Geelen V,D'Hollander I,Thijs V,Van Den Bosch L,Carmeliet P,Robberecht W

更新日期：2007-10-01 00:00:00

abstract：:Gene silencing through aberrant CpG island methylation is a frequent epigenetic defect in hepatocellular carcinoma (HCC). However, nothing is known as yet whether aberrant hypermethylation occurs already in non-neoplastic liver cells from patients with hereditary haemochromatosis who have a clearly elevated risk for d...

journal_title：Human molecular genetics

authors： Lehmann U,Wingen LU,Brakensiek K,Wedemeyer H,Becker T,Heim A,Metzig K,Hasemeier B,Kreipe H,Flemming P

更新日期：2007-06-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a devastating muscle wasting disease caused by mutations in dystrophin. Several downstream consequences of dystrophin deficiency are triggers of endoplasmic reticulum (ER) stress, including loss of calcium homeostasis, hypoxia and oxidative stress. During ER stress, misfolded prote...

journal_title：Human molecular genetics

authors： Moorwood C,Barton ER

更新日期：2014-10-15 00:00:00

abstract：:Fatty liver has been associated with unfavourable metabolic changes in circulation. To provide insights in fatty liver-related metabolic deviations, we compared metabolic association profile of fatty liver versus metabolic association profiles of genotypes increasing the risk of non-alcoholic fatty liver disease (NAFL...

journal_title：Human molecular genetics

authors： Sliz E,Sebert S,Würtz P,Kangas AJ,Soininen P,Lehtimäki T,Kähönen M,Viikari J,Männikkö M,Ala-Korpela M,Raitakari OT,Kettunen J

更新日期：2018-06-15 00:00:00

abstract：:X-linked agammaglobulinaemia (XLA) is an inherited immunodeficiency resulting from mutations in the gene for a cytoplasmic protein tyrosine kinase (Btk). We have utilised reverse-transcription-based PCR in combination with the chemical cleavage and mismatch technique (CCM) to screen for Btk mutations in 42 unrelated p...

journal_title：Human molecular genetics

authors： Jin H,Webster AD,Vihinen M,Sideras P,Vorechovsky I,Hammarstróm L,Bernatowska-Matuszkiewicz E,Smith CI,Bobrow M,Vetrie D

更新日期：1995-04-01 00:00:00

abstract：:Fragile X syndrome, the most common form of inherited mental retardation, is caused by the loss of the fragile X mental retardation protein (FMRP). FMRP is a ubiquitously expressed, multi-domain RNA-binding protein, but its in vivo function remains poorly understood. Recent studies have shown that FMRP participates in...

journal_title：Human molecular genetics

authors： Liu W,Jiang F,Bi X,Zhang YQ

更新日期：2012-11-01 00:00:00

abstract：:In mammals, sperm-oocyte fusion initiates Ca(2+) oscillations leading to a series of events called oocyte activation, which is the first stage of embryo development. Ca(2+) signaling is elicited by the delivery of an oocyte-activating factor by the sperm. A sperm-specific phospholipase C (PLCZ1) has emerged as the lik...

journal_title：Human molecular genetics

authors： Escoffier J,Lee HC,Yassine S,Zouari R,Martinez G,Karaouzène T,Coutton C,Kherraf ZE,Halouani L,Triki C,Nef S,Thierry-Mieg N,Savinov SN,Fissore R,Ray PF,Arnoult C

更新日期：2016-03-01 00:00:00

abstract：:The androgen insensitivity syndrome (AIS) is a disorder of male sexual development resulting in a wide range of clinical phenotypes. AIS is classified into two phenotypic forms: complete (CAIS) and partial (PAIS). To determine the molecular basis of the phenotypic diversity in AIS, we have studied 27 subjects (13 CAIS...

journal_title：Human molecular genetics

authors： Batch JA,Williams DM,Davies HR,Brown BD,Evans BA,Hughes IA,Patterson MN

更新日期：1992-10-01 00:00:00

abstract：:Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by clinical disease caused by weakly virulent mycobacteria, such as environmental mycobacteria and Bacillus Calmette-Guérin vaccines, in otherwise healthy individuals. All known genetic etiologies disrupt interferon (IFN)-γ immunity. Germline bi...

journal_title：Human molecular genetics

authors： Oleaga-Quintas C,Deswarte C,Moncada-Vélez M,Metin A,Krishna Rao I,Kanık-Yüksek S,Nieto-Patlán A,Guérin A,Gülhan B,Murthy S,Özkaya-Parlakay A,Abel L,Martínez-Barricarte R,Pérez de Diego R,Boisson-Dupuis S,Kong XF,Casanova

更新日期：2018-11-15 00:00:00

abstract：:Alzheimer's disease (AD) and related tauopathies comprise a large group of neurodegenerative diseases associated with the pathological aggregation of tau protein. While much effort has focused on understanding the function of tau, little is known about the endogenous mechanisms regulating tau metabolism in vivo and ho...

journal_title：Human molecular genetics

authors： Smith PY,Hernandez-Rapp J,Jolivette F,Lecours C,Bisht K,Goupil C,Dorval V,Parsi S,Morin F,Planel E,Bennett DA,Fernandez-Gomez FJ,Sergeant N,Buée L,Tremblay MÈ,Calon F,Hébert SS

更新日期：2015-12-01 00:00:00

abstract：:Insulin resistance (IR) is a key determinant of type 2 diabetes (T2D) and other metabolic disorders. This genome-wide association study (GWAS) was designed to shed light on the genetic basis of fasting insulin (FI) and IR in 927 non-diabetic African Americans. 5 396 838 single-nucleotide polymorphisms (SNPs) were test...

journal_title：Human molecular genetics

authors： Chen G,Bentley A,Adeyemo A,Shriner D,Zhou J,Doumatey A,Huang H,Ramos E,Erdos M,Gerry N,Herbert A,Christman M,Rotimi C

更新日期：2012-10-15 00:00:00

abstract：:Human cytidine deaminase APOBEC3G and the virion infectivity factor (vif) of the human immunodeficiency virus (HIV) are a pair of antagonistic molecules. In the absence of vif, APOBEC3G induces a high rate of dC to dU mutations in the nascent reverse transcripts of HIV that leads to the degradation of the HIV genome. ...

journal_title：Human molecular genetics

authors： Zhang J,Webb DM

更新日期：2004-08-15 00:00:00

abstract：:Proteins and protein networks associated with cochlear pathogenesis in the Ames waltzer (av) mouse, a model for deafness in Usher syndrome 1F (USH1F), were identified. Cochlear protein from wild-type and av mice at postnatal day 30, a time point in which cochlear pathology is well established, was analyzed by quantita...

journal_title：Human molecular genetics

authors： Chance MR,Chang J,Liu S,Gokulrangan G,Chen DH,Lindsay A,Geng R,Zheng QY,Alagramam K

更新日期：2010-04-15 00:00:00

abstract：:Deletion of the distal short arm of chromosome 9 (9p) has been reported in a number of cases to be associated with gonadal dysgenesis and XY sex reversal, suggesting that this region contains one or more genes required in two copies for normal testis development. Recent studies have greatly narrowed the interval conta...

journal_title：Human molecular genetics

authors： Raymond CS,Parker ED,Kettlewell JR,Brown LG,Page DC,Kusz K,Jaruzelska J,Reinberg Y,Flejter WL,Bardwell VJ,Hirsch B,Zarkower D

更新日期：1999-06-01 00:00:00

abstract：:Great strides in gene discovery have been made using a multitude of methods to associate phenotypes with genetic variants, but there still remains a substantial gap between observed symptoms and identified genetic defects. Herein, we use the convergence of various genetic and genomic techniques to investigate the unde...

journal_title：Human molecular genetics

authors： Currall BB,Chen M,Sallari RC,Cotter M,Wong KE,Robertson NG,Penney KL,Lunardi A,Reschke M,Hickox AE,Yin Y,Wong GT,Fung J,Brown KK,Williamson RE,Sinnott-Armstrong NA,Kammin T,Ivanov A,Zepeda-Mendoza CJ,Shen J,Quade

更新日期：2018-12-15 00:00:00

abstract：:A randomization procedure to evaluate the significance level and the false-discovery rate in complex microarray experiments is proposed. A related graph can be used to compare different test statistics that can be used to analyze the same experiment. This graph is closely related to receiver operator characteristic (R...

journal_title：Human molecular genetics

authors： Kooperberg C,Sipione S,LeBlanc M,Strand AD,Cattaneo E,Olson JM

更新日期：2002-09-15 00:00:00

abstract：:We isolated peroxisome biogenesis mutants ZP128 and ZP150 from rat PEX2 -transformed Chinese hamster ovary (CHO) cells, by the 9-(1'-pyrene)nonanol/ultraviolet method. The mutants lacked morphologically recognizable peroxisomes and showed a typical peroxisome assembly-defective phenotype such as a high sensitivity to ...

journal_title：Human molecular genetics

authors： Toyama R,Mukai S,Itagaki A,Tamura S,Shimozawa N,Suzuki Y,Kondo N,Wanders RJ,Fujiki Y

更新日期：1999-09-01 00:00:00

abstract：:In order to characterize the dynamics of CTG repeat instability in somatic and germline tissue from myotonic dystrophy (DM) males we have used small pool polymerase chain reaction (PCR) in a detailed quantitative analysis of repeat length variation. We demonstrate that the heterogeneous smear of CTG repeats observed i...

journal_title：Human molecular genetics

authors： Monckton DG,Wong LJ,Ashizawa T,Caskey CT

更新日期：1995-01-01 00:00:00

abstract：:Intracellular accumulations of mutant, misfolded proteins are major pathological hallmarks of amyotrophic lateral sclerosis (ALS) and related disorders. Recently, mutations in Sigma receptor 1 (SigR1) have been found to cause a form of ALS and frontotemporal lobar degeneration (FTLD). Our goal was to pinpoint alterati...

journal_title：Human molecular genetics

authors： Prause J,Goswami A,Katona I,Roos A,Schnizler M,Bushuven E,Dreier A,Buchkremer S,Johann S,Beyer C,Deschauer M,Troost D,Weis J

更新日期：2013-04-15 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts that ultimately destroy kidney function. Mutations in the PKD1 and PKD2 genes cause ADPKD. Their protein products, polycystin-1 (PC1) and polycystin-2 (PC2) have been proposed to form a calcium-permeable receptor-channel...

journal_title：Human molecular genetics

authors： Parnell SC,Magenheimer BS,Maser RL,Pavlov TS,Havens MA,Hastings ML,Jackson SF,Ward CJ,Peterson KR,Staruschenko A,Calvet JP

更新日期：2018-10-01 00:00:00

abstract：:5-Methylcytosine (5mC), generated through the covalent addition of a methyl group to the fifth carbon of cytosine, is the most prevalent DNA modification in humans and functions as a critical player in the regulation of tissue and cell-specific gene expression. 5mC can be oxidized to 5-hydroxymethylcytosine (5hmC) by ...

journal_title：Human molecular genetics

authors： Qin L,Xu Q,Li Z,Chen L,Li Y,Yang N,Liu Z,Guo J,Shen L,Allen EG,Chen C,Ma C,Wu H,Zhu X,Jin P,Tang B

更新日期：2020-01-01 00:00:00

abstract：:Alterations in mitochondrial DNA (mtDNA) and consequent loss of mitochondrial function underlie the mitochondrial theory of aging. In this study, we systematically analyzed the mtDNA control region somatic mutation pattern in 2864 single hematopoietic stem cells (HSCs) and progenitors, isolated by flow cytometry sorti...

journal_title：Human molecular genetics

authors： Yao YG,Ellison FM,McCoy JP,Chen J,Young NS

更新日期：2007-02-01 00:00:00

abstract：:Research of cilia has gained significant momentum in the last 15 years, as an increasing number of human genetic diseases were found to be caused by disruption of a protein that localizes to cilia. These ciliopathies are as diverse as the functions of the associated proteins, covering a spectrum of overlapping phenoty...

journal_title：Human molecular genetics

authors： van Reeuwijk J,Arts HH,Roepman R

更新日期：2011-10-15 00:00:00

abstract：:Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with rece...

journal_title：Human molecular genetics

authors： Müller FB,Huber M,Kinaciyan T,Hausser I,Schaffrath C,Krieg T,Hohl D,Korge BP,Arin MJ

更新日期：2006-04-01 00:00:00

abstract：:The unconventional myosin genes Myo15, Myo6 and Myo7a are essential for hearing in both humans and mice. Despite the expression of each gene in multiple organs, mutations result in identifiable phenotypes only in auditory or ocular sensory organs. The pirouette (pi) mouse also exhibits deafness and an inner ear pathol...

journal_title：Human molecular genetics

authors： Karolyi IJ,Probst FJ,Beyer L,Odeh H,Dootz G,Cha KB,Martin DM,Avraham KB,Kohrman D,Dolan DF,Raphael Y,Camper SA

更新日期：2003-11-01 00:00:00

abstract：:Mutations in GDAP1 lead to recessively or dominantly inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT), indicating that GDAP1 is essential for the viability of cells in the peripheral nervous system. GDAP1 contains domains characteristic of glutathione-S-transferases (GSTs), is located in the outer ...

journal_title：Human molecular genetics

authors： Noack R,Frede S,Albrecht P,Henke N,Pfeiffer A,Knoll K,Dehmel T,Meyer Zu Hörste G,Stettner M,Kieseier BC,Summer H,Golz S,Kochanski A,Wiedau-Pazos M,Arnold S,Lewerenz J,Methner A

更新日期：2012-01-01 00:00:00

abstract：:IGF2 loss of imprinting (LOI) is fairly prevalent and implicated in the pathogenesis of human cancer and developmental disease; however, the causes of this phenomenon are largely unknown. We determined whether the post-weaning diet of mice affects allelic expression and CpG methylation of Igf2. C57BL/6JxCast/EiJ F1 hy...

journal_title：Human molecular genetics

authors： Waterland RA,Lin JR,Smith CA,Jirtle RL

更新日期：2006-03-01 00:00:00