Age-dependent accumulation of mtDNA mutations in murine hematopoietic stem cells is modulated by the nuclear genetic background.

abstract：:Reduced activity of beta4-galactosyltransferase 7 (beta4GalT-7), an enzyme involved in synthesizing the glycosaminoglycan linkage region of proteoglycans, is associated with the progeroid form of Ehlers-Danlos syndrome (EDS). In the invertebrates Drosophila melanogaster and Caenorhabditis elegans, mutations in beta4Ga...

journal_title：Human molecular genetics

authors： Götte M,Spillmann D,Yip GW,Versteeg E,Echtermeyer FG,van Kuppevelt TH,Kiesel L

更新日期：2008-04-01 00:00:00

abstract：:Genome-wide association studies (GWASs) identified over 500 single nucleotide polymorphisms (SNPs) influencing cancer risk. It is logical to expect the cancer-associated genes to cluster in pathways directly involved in carcinogenesis, e.g. cell cycle. Nevertheless, analyses of the GWAS-detected cancer risk genes usua...

journal_title：Human molecular genetics

authors： Gorlova OY,Demidenko EI,Amos CI,Gorlov IP

更新日期：2017-04-15 00:00:00

abstract：:Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease caused by the expansion of a polyglutamine tract within the SCA1 product, ataxin-1. Previously, using transgenic mice, it was demonstrated that in order for a mutant allele of ataxin-1 to cause disease it must be transported to the...

journal_title：Human molecular genetics

authors： Yue S,Serra HG,Zoghbi HY,Orr HT

更新日期：2001-01-01 00:00:00

abstract：:Marfan syndrome is an autosomal dominant disorder mainly caused by mutations within FBN1 gene. The disease displays large variability in age of onset or severity and very poor phenotype/genotype correlations have been demonstrated. We investigated the hypothesis that phenotype severity could be related to the variable...

journal_title：Human molecular genetics

authors： Aubart M,Gross MS,Hanna N,Zabot MT,Sznajder M,Detaint D,Gouya L,Jondeau G,Boileau C,Stheneur C

更新日期：2015-05-15 00:00:00

abstract：:The minibrain (mnb) gene of Drosophila melanogaster encodes a serine-threonine protein kinase with an essential role in postembryonic neurogenesis. A corresponding human gene with similar function to mnb could provide important insights into both normal brain development and the abnormal brain development and mental r...

journal_title：Human molecular genetics

authors： Guimerá J,Casas C,Pucharcòs C,Solans A,Domènech A,Planas AM,Ashley J,Lovett M,Estivill X,Pritchard MA

更新日期：1996-09-01 00:00:00

abstract：:'Pure' familial spastic paraplegias (FSP) are neurodegenerative disorders that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect in FSP is unknown. Genetic linkage analysis was applied to fiv...

journal_title：Human molecular genetics

authors： Hentati A,Pericak-Vance MA,Hung WY,Belal S,Laing N,Boustany RM,Hentati F,Ben Hamida M,Siddique T

更新日期：1994-08-01 00:00:00

abstract：:Several known or putative glycosyltransferases are required for the synthesis of laminin-binding glycans on alpha-dystroglycan (αDG), including POMT1, POMT2, POMGnT1, LARGE, Fukutin, FKRP, ISPD and GTDC2. Mutations in these glycosyltransferase genes result in defective αDG glycosylation and reduced ligand binding by α...

journal_title：Human molecular genetics

authors： Buysse K,Riemersma M,Powell G,van Reeuwijk J,Chitayat D,Roscioli T,Kamsteeg EJ,van den Elzen C,van Beusekom E,Blaser S,Babul-Hirji R,Halliday W,Wright GJ,Stemple DL,Lin YY,Lefeber DJ,van Bokhoven H

更新日期：2013-05-01 00:00:00

abstract：:Inherited retinal dystrophies are a group of genetically heterogeneous conditions with broad phenotypic heterogeneity. We analyzed a large five-generation pedigree with early-onset recessive retinal degeneration to identify the causative mutation. Linkage analysis and homozygosity mapping combined with exome sequencin...

journal_title：Human molecular genetics

authors： Biswas P,Chavali VR,Agnello G,Stone E,Chakarova C,Duncan JL,Kannabiran C,Homsher M,Bhattacharya SS,Naeem MA,Kimchi A,Sharon D,Iwata T,Riazuddin S,Reddy GB,Hejtmancik JF,Georgiou G,Riazuddin SA,Ayyagari R

更新日期：2016-06-15 00:00:00

abstract：:Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting carriers of the fragile X-premutation, who have an expanded CGG repeat in the 5'-UTR of the FMR1 gene. FXTAS is characterized by progressive development of intention tremor, ataxia, parkinsonism and neuropsychologi...

journal_title：Human molecular genetics

authors： Hukema RK,Buijsen RA,Schonewille M,Raske C,Severijnen LA,Nieuwenhuizen-Bakker I,Verhagen RF,van Dessel L,Maas A,Charlet-Berguerand N,De Zeeuw CI,Hagerman PJ,Berman RF,Willemsen R

更新日期：2015-09-01 00:00:00

abstract：:P/Q-type voltage-gated calcium channels are regulated, in part, through the cytoplasmic C-terminus of their alpha1A subunit. Genetic absence or alteration of the C-terminus leads to abnormal channel function and neurological disease. Here, we show that the terminal 60-75 kDa of the endogenous alpha1A C-terminus is cle...

journal_title：Human molecular genetics

authors： Kordasiewicz HB,Thompson RM,Clark HB,Gomez CM

更新日期：2006-05-15 00:00:00

abstract：:Aberrant tau protein accumulation drives neurofibrillary tangle (NFT) formation in several neurodegenerative diseases. Currently, efforts to elucidate pathogenic mechanisms and assess the efficacy of therapeutic targets are limited by constraints of existing models of tauopathy. In order to generate a more versatile m...

journal_title：Human molecular genetics

authors： Cook C,Kang SS,Carlomagno Y,Lin WL,Yue M,Kurti A,Shinohara M,Jansen-West K,Perkerson E,Castanedes-Casey M,Rousseau L,Phillips V,Bu G,Dickson DW,Petrucelli L,Fryer JD

更新日期：2015-11-01 00:00:00

abstract：:Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BP...

journal_title：Human molecular genetics

authors： Small KW,Stalvey M,Fisher L,Mullen L,Dickel C,Beadles K,Reimer R,Lessner A,Lewis K,Pericak-Vance MA

更新日期：1995-03-01 00:00:00

abstract：:Directed hepatocyte differentiation from human induced pluripotent stem cells (iPSCs) potentially provides a unique platform for modeling liver genetic diseases and performing drug-toxicity screening in vitro. Wilson's disease is a genetic disease caused by mutations in the ATP7B gene, whose product is a liver transpo...

journal_title：Human molecular genetics

authors： Zhang S,Chen S,Li W,Guo X,Zhao P,Xu J,Chen Y,Pan Q,Liu X,Zychlinski D,Lu H,Tortorella MD,Schambach A,Wang Y,Pei D,Esteban MA

更新日期：2011-08-15 00:00:00

abstract：:Huntington's disease (HD) is one of a class of inherited progressive neurodegenerative disorders that are caused by a CAG/polyglutamine repeat expansion. We have previously generated mice that are transgenic for exon 1 of the HD gene carrying highly expanded CAG repeats which develop a progressive movement disorder an...

journal_title：Human molecular genetics

authors： Sathasivam K,Hobbs C,Turmaine M,Mangiarini L,Mahal A,Bertaux F,Wanker EE,Doherty P,Davies SW,Bates GP

更新日期：1999-05-01 00:00:00

abstract：:We have cloned, sequenced and annotated segments of DNA spanning the mouse, chicken and pufferfish alpha globin gene clusters and compared them with the corresponding region in man. This has defined a small segment ( approximately 135-155 kb) of synteny and conserved gene order, which may contain all of the elements r...

journal_title：Human molecular genetics

authors： Flint J,Tufarelli C,Peden J,Clark K,Daniels RJ,Hardison R,Miller W,Philipsen S,Tan-Un KC,McMorrow T,Frampton J,Alter BP,Frischauf AM,Higgs DR

更新日期：2001-02-15 00:00:00

abstract：:Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRM...

journal_title：Human molecular genetics

authors： Boczonadi V,Smith PM,Pyle A,Gomez-Duran A,Schara U,Tulinius M,Chinnery PF,Horvath R

更新日期：2013-11-15 00:00:00

abstract：:Using a bromodeoxyuridine incorporation method to detect replicated DNA, we studied allele-specific replication of several sites within the human Prader-Willi/Angelman and IGF2/H19 imprinted regions. No obvious allele-specific differences in time of replication were detected at most loci previously reported to replica...

journal_title：Human molecular genetics

authors： Kawame H,Gartler SM,Hansen RS

更新日期：1995-12-01 00:00:00

abstract：:A relationship between fragile sites, specific genomic regions visible as gaps or breaks on cultivated chromosomes, and human disease has been proposed many years ago. Evidence for a role of the ubiquitously expressed common fragile sites characterized by peculiar genome architecture in cancer has been accumulated ove...

journal_title：Human molecular genetics

authors： Debacker K,Kooy RF

更新日期：2007-10-15 00:00:00

abstract：:Titin-truncating variants (TTNtv) are the most common genetic cause of dilated cardiomyopathy. TTNtv occur in ~1% of the general population and causes subclinical cardiac remodeling in asymptomatic carriers. In rat models with either proximal or distal TTNtv, we previously showed altered cardiac metabolism at baseline...

journal_title：Human molecular genetics

authors： Zhou J,Ng B,Ko NSJ,Fiedler LR,Khin E,Lim A,Sahib NE,Wu Y,Chothani SP,Schafer S,Bay BH,Sinha RA,Cook SA,Yen PM

更新日期：2019-06-15 00:00:00

abstract：:Reduced sarcolemmal integrity in dystrophin-deficient muscles of mdx mice and Duchenne muscular dystrophy (DMD) patients has been reported to result in altered calcium homeostasis. Previous studies have shown a correlative relationship between calcium-dependent protease (calpain) activity in dystrophic muscle and musc...

journal_title：Human molecular genetics

authors： Spencer MJ,Mellgren RL

更新日期：2002-10-01 00:00:00

abstract：:Mutations in the nuclear receptor gene, NR2E3, cause a disorder of human retinal photoreceptor development characterized by hyperfunction and excess of the minority S (short wavelength or blue) cone photoreceptor type, but near absence of function of the majority rod receptor. NR2E3 disease can also progress to blindn...

journal_title：Human molecular genetics

authors： Jacobson SG,Sumaroka A,Aleman TS,Cideciyan AV,Schwartz SB,Roman AJ,McInnes RR,Sheffield VC,Stone EM,Swaroop A,Wright AF

更新日期：2004-09-01 00:00:00

abstract：:PLEC, the gene encoding the cytolinker protein plectin, has eight tissue-specific isoforms in humans, arising by alternate splicing of the first exon. To date, all PLEC mutations that cause epidermolysis bullosa simplex (EBS) were found in exons common to all isoforms. Due to the ubiquitous presence of plectin in mamm...

journal_title：Human molecular genetics

authors： Gostyńska KB,Nijenhuis M,Lemmink H,Pas HH,Pasmooij AM,Lang KK,Castañón MJ,Wiche G,Jonkman MF

更新日期：2015-06-01 00:00:00

abstract：:Extracellular deposition of amyloid-beta (Aβ) peptide, a metabolite of sequential cleavage of amyloid precursor protein (APP), is a critical step in the pathogenesis of Alzheimer's disease (AD). While death-associated protein kinase 1 (DAPK1) is highly expressed in AD brains and its genetic variants are linked to AD r...

journal_title：Human molecular genetics

authors： Kim BM,You MH,Chen CH,Suh J,Tanzi RE,Ho Lee T

更新日期：2016-06-15 00:00:00

abstract：:The DUX4 transcription factor is normally expressed in the cleavage-stage embryo and regulates genes involved in embryonic genome activation. Misexpression of DUX4 in skeletal muscle, however, is toxic and causes facioscapulohumeral muscular dystrophy (FSHD). We recently showed DUX4-induced toxicity is due, in part, t...

journal_title：Human molecular genetics

authors： Shadle SC,Bennett SR,Wong CJ,Karreman NA,Campbell AE,van der Maarel SM,Bass BL,Tapscott SJ

更新日期：2019-12-01 00:00:00

abstract：:During human spermatogenesis, germ cells undergo dynamic changes in chromatin organization/re-packaging and in transcriptomes. In order to better understand the underlying mechanism(s), scATAC-Seq of 5376 testicular cells from 3 normal men were performed. Data were analyzed in parallel with the scRNA-Seq data of human...

journal_title：Human molecular genetics

authors： Wu X,Lu M,Yun D,Gao S,Chen S,Hu L,Wu Y,Wang X,Duan E,Cheng CY,Sun F

更新日期：2021-01-12 00:00:00

abstract：:Recent genome-wide association studies (GWAS) have revealed genetic risk factors in autoimmune and inflammatory disorders. Several of the associated genes and underlying pathways are shared by various autoimmune diseases. Rheumatoid arthritis (RA) and coeliac disease (CD) are two autoimmune disorders which have common...

journal_title：Human molecular genetics

authors： Coenen MJ,Trynka G,Heskamp S,Franke B,van Diemen CC,Smolonska J,van Leeuwen M,Brouwer E,Boezen MH,Postma DS,Platteel M,Zanen P,Lammers JW,Groen HJ,Mali WP,Mulder CJ,Tack GJ,Verbeek WH,Wolters VM,Houwen RH,Mearin M

更新日期：2009-11-01 00:00:00

abstract：:The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 is responsible for many...

journal_title：Human molecular genetics

authors： Liu N,Schoch K,Luo X,Pena LDM,Bhavana VH,Kukolich MK,Stringer S,Powis Z,Radtke K,Mroske C,Deak KL,McDonald MT,McConkie-Rosell A,Markert ML,Kranz PG,Stong N,Need AC,Bick D,Amaral MD,Worthey EA,Levy S,Undiagnosed

更新日期：2018-07-15 00:00:00

abstract：:Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology. However, no one knows what triggers muscle defect and when alteration arises. ...

journal_title：Human molecular genetics

authors： Broucqsault N,Morere J,Gaillard MC,Dumonceaux J,Torrents J,Salort-Campana E,Maues De Paula A,Bartoli M,Fernandez C,Chesnais AL,Ferreboeuf M,Sarda L,Dufour H,Desnuelle C,Attarian S,Levy N,Nguyen K,Magdinier F,Roche S

更新日期：2013-10-15 00:00:00

abstract：:Despite the clinical importance of human aneuploidy, we know little of the causes of mammalian non-disjunction. In part, this reflects the fact that, unlike lower organisms, segregation 'impaired' chromosomes are virtually non-existent in mammals. To address this issue, we have studied the mouse Y chromosome on the BA...

journal_title：Human molecular genetics

authors： Bean CJ,Hunt PA,Millie EA,Hassold TJ

更新日期：2001-04-15 00:00:00

abstract：:Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant disease caused by mutations in the gene encoding protein kinase C gamma (PKC gamma). We report an SCA14 family with a novel deletion of a termination-codon-containing region, resulting in a missense change and a C-terminal 13-amino-acid extension with inc...

journal_title：Human molecular genetics

authors： Asai H,Hirano M,Shimada K,Kiriyama T,Furiya Y,Ikeda M,Iwamoto T,Mori T,Nishinaka K,Konishi N,Udaka F,Ueno S

更新日期：2009-10-01 00:00:00