Alteration of performance in a mouse model of Emery-Dreifuss muscular dystrophy caused by A-type lamins gene mutation.

abstract：:The MELAS syndrome is a mitochondrial encephalomyopathy associated with a point mutation at nucleotide 3243 of mitochondrial DNA (mtDNA). The same mutation has also been found in patients with maternally inherited diabetes mellitus. The mutation occurs within a sequence needed for termination of mitochondrial transcri...

journal_title：Human molecular genetics

authors： Suomalainen A,Majander A,Pihko H,Peltonen L,Syvänen AC

更新日期：1993-05-01 00:00:00

abstract：:Long range restriction site maps of 13 Mb of mouse chromosome 1 and 11 Mb of human chromosome 1 were constructed using a framework provided by a detailed mouse genetic map. Where an unambiguous gene order could be determined in both species (14 genes), the human and mouse orders were identical. In addition, the distan...

journal_title：Human molecular genetics

authors： Oakey RJ,Watson ML,Seldin MF

更新日期：1992-11-01 00:00:00

abstract：:We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-function variants (p.G...

journal_title：Human molecular genetics

authors： Hardies K,May P,Djémié T,Tarta-Arsene O,Deconinck T,Craiu D,AR working group of the EuroEPINOMICS RES Consortium.,Helbig I,Suls A,Balling R,Weckhuysen S,De Jonghe P,Hirst J

更新日期：2015-04-15 00:00:00

abstract：:Mutations in PKD1 cause dominant polycystic kidney disease (PKD), characterized by large fluid-filled kidney cysts in adult life, but the molecular mechanism of cystogenesis remains obscure. Ostrom et al. [Dev. Biol., 219, 250-258 (2000)] showed that reduced dosage of Pax2 caused increased apoptosis, and ameliorated c...

journal_title：Human molecular genetics

authors： Stayner C,Iglesias DM,Goodyer PR,Ellis L,Germino G,Zhou J,Eccles MR

更新日期：2006-12-15 00:00:00

abstract：:Melanomas contain high frequencies of tumorigenic cells and their tumorigenic capacity resides in several distinct subpopulations within melanoma. Since their metastatic potential is linked to their ability to recruit lymphatic vessels, we aimed at identifying lymphangiogenic subpopulations by comparative in vitro ana...

journal_title：Human molecular genetics

authors： Swoboda A,Schanab O,Tauber S,Bilban M,Berger W,Petzelbauer P,Mikula M

更新日期：2012-08-01 00:00:00

abstract：:LKB1 is a serine/threonine kinase which is inactivated by mutation in the Peutz-Jeghers polyposis and cancer predisposition syndrome (PJS). We have identified a novel leucine-rich repeat containing protein, LIP1, that interacts with LKB1. The LIP1 gene consists of 25 exons, maps to human chromosome 2q36 and encodes a ...

journal_title：Human molecular genetics

authors： Smith DP,Rayter SI,Niederlander C,Spicer J,Jones CM,Ashworth A

更新日期：2001-12-01 00:00:00

abstract：:The oculo-auriculo-vertebral spectrum (OAVS) (OMIM % 164210) is a common developmental disorder characterized by hemifacial microsomia, epibulbar tumours, ear malformation and vertebral anomalies. Although rare familial cases suggest that OAVS has a genetic basis, no genetic defect has been identified so far. In a pat...

journal_title：Human molecular genetics

authors： Fischer S,Lüdecke HJ,Wieczorek D,Böhringer S,Gillessen-Kaesbach G,Horsthemke B

更新日期：2006-02-15 00:00:00

abstract：:NSDHL, for NAD(P)H steroid dehydrogenase-like, encodes a sterol dehydrogenase or decarboxylase involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. Mutations in this gene are associated with human CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and li...

journal_title：Human molecular genetics

authors： Caldas H,Herman GE

更新日期：2003-11-15 00:00:00

abstract：:The infantile neuronal ceroid lipofuscinosis (INCL), a rare (one in 100 000 births) but one of the most lethal inherited neurodegenerative storage disorders of childhood, is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. PPT1 cleaves thioester linkages in s-acylated (palmitoylate...

journal_title：Human molecular genetics

authors： Kim SJ,Zhang Z,Lee YC,Mukherjee AB

更新日期：2006-05-15 00:00:00

abstract：:Typically, autosomal dominant familial hypercholesterolaemia (FH) is caused by mutations in the low density lipoprotein (LDL) receptor or apolipoprotein B genes that result in defective clearance of plasma LDL by the liver, but a third gene (PCSK9), encoding a putative proprotein convertase, has recently been implicat...

journal_title：Human molecular genetics

authors： Sun XM,Eden ER,Tosi I,Neuwirth CK,Wile D,Naoumova RP,Soutar AK

更新日期：2005-05-01 00:00:00

abstract：:Common variants in the transcription factor 7-like 2 (TCF7L2) gene have been identified as the strongest genetic risk factors for type 2 diabetes (T2D). However, the mechanisms by which these non-coding variants increase risk for T2D are not well-established. We used 13 expression assays to survey mRNA expression of m...

journal_title：Human molecular genetics

authors： Prokunina-Olsson L,Welch C,Hansson O,Adhikari N,Scott LJ,Usher N,Tong M,Sprau A,Swift A,Bonnycastle LL,Erdos MR,He Z,Saxena R,Harmon B,Kotova O,Hoffman EP,Altshuler D,Groop L,Boehnke M,Collins FS,Hall JL

更新日期：2009-10-15 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for approximately 85% of cases whereas PKD2 on chromosome 4 accounts for approximately 15%. Mutations in the PKD3 gene are rare. All patients present with similar clinical phenotypes, and t...

journal_title：Human molecular genetics

authors： Koptides M,Hadjimichael C,Koupepidou P,Pierides A,Constantinou Deltas C

更新日期：1999-03-01 00:00:00

abstract：:Single-nucleotide polymorphism (SNP) tagging is widely used as a way of saving genotyping costs in association studies. A number of different tagging methods have been developed to reduce the number of markers to be genotyped while maintaining power for detecting effects on non-assayed SNPs. How the different methods ...

journal_title：Human molecular genetics

authors： Ke X,Miretti MM,Broxholme J,Hunt S,Beck S,Bentley DR,Deloukas P,Cardon LR

更新日期：2005-09-15 00:00:00

abstract：:Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodyspl...

journal_title：Human molecular genetics

authors： Duchatelet S,Ostergaard E,Cortes D,Lemainque A,Julier C

更新日期：2005-01-01 00:00:00

abstract：:Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2 expression is limited such that it is only detectable in skeletal muscle, heart, brain and spinal cord. Currently, the role of EEF1A2 in normal cardiac development an...

journal_title：Human molecular genetics

authors： Cao S,Smith LL,Padilla-Lopez SR,Guida BS,Blume E,Shi J,Morton SU,Brownstein CA,Beggs AH,Kruer MC,Agrawal PB

更新日期：2017-09-15 00:00:00

abstract：:The fragile X syndrome results from transcriptional silencing of the FMR1 gene and the absence of its encoded FMRP protein. Two autosomal homologues of the FMR1 gene, FXR1 and FXR2, have been identified and the overall structures of the corresponding proteins are very similar to that of FMRP. Using antibodies raised a...

journal_title：Human molecular genetics

authors： Khandjian EW,Bardoni B,Corbin F,Sittler A,Giroux S,Heitz D,Tremblay S,Pinset C,Montarras D,Rousseau F,Mandel J

更新日期：1998-12-01 00:00:00

abstract：:The transient receptor potential vanilloid 1 (TRPV1) protein is a pain receptor that elicits a hot sensation when an organism eats the capsaicin of red chili peppers. This calcium (Ca2+)-permeable cation channel is mostly expressed in the peripheral nervous system sensory neurons but also in the central nervous system...

journal_title：Human molecular genetics

authors： Kim J,Lee S,Kim J,Ham S,Park JHY,Han S,Jung YK,Shim I,Han JS,Lee KW,Kim J

更新日期：2020-01-15 00:00:00

abstract：:We studied the association between common haplotypes in six relevant lipid metabolism genes with plasma lipid levels. We selected single-nucleotide polymorphisms (SNPs) in the cholesterol ester transfer protein (CETP), lipoprotein lipase (LPL), hepatic triglyceride lipase (HL), low-density lipoprotein cholesterol rece...

journal_title：Human molecular genetics

authors： Knoblauch H,Bauerfeind A,Krähenbühl C,Daury A,Rohde K,Bejanin S,Essioux L,Schuster H,Luft FC,Reich JG

更新日期：2002-06-01 00:00:00

abstract：:In order to identify genes in the Prader-Willi/Angelman syndrome critical region, radiolabeled cDNA probes from poly(A)+ RNA from mouse tissues were used to identify potential exon-containing genomic DNA fragments in cosmid or phage clones from appropriate yeast artificial chromosomes, and these fragments were subsequ...

journal_title：Human molecular genetics

authors： Nakao M,Sutcliffe JS,Durtschi B,Mutirangura A,Ledbetter DH,Beaudet AL

更新日期：1994-02-01 00:00:00

abstract：:Employing the mouse homologue of the human choroideremia cDNA as a probe, we have identified a homologous human gene. The consensus cDNA of this gene, designated human choroideremia-like (hCHML) gene, encompasses an open reading frame of 1968 base pairs. The deduced polypeptide of hCHML displays several regions of hom...

journal_title：Human molecular genetics

authors： Cremers FP,Molloy CM,van de Pol DJ,van den Hurk JA,Bach I,Geurts van Kessel AH,Ropers HH

更新日期：1992-05-01 00:00:00

abstract：:Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected s...

journal_title：Human molecular genetics

authors： Slavotinek AM,Mehrotra P,Nazarenko I,Tang PL,Lao R,Cameron D,Li B,Chu C,Chou C,Marqueling AL,Yahyavi M,Cordoro K,Frieden I,Glaser T,Prescott T,Morren MA,Devriendt K,Kwok PY,Petkovich M,Desnick RJ

更新日期：2013-02-15 00:00:00

abstract：:Huntington's disease (HD) is caused by an expansion of a poly glutamine (polyQ) stretch in the huntingtin protein (HTT) that is necessary to cause pathology and formation of HTT aggregates. Here we ask whether expanded polyQ is sufficient to cause pathology and aggregate formation. By addressing the sufficiency questi...

journal_title：Human molecular genetics

authors： Chongtham A,Bornemann DJ,Barbaro BA,Lukacsovich T,Agrawal N,Syed A,Worthge S,Purcell J,Burke J,Chin TM,Marsh JL

更新日期：2020-03-13 00:00:00

abstract：:With 46 subunits, human mitochondrial complex I is the largest enzyme of the oxidative phosphorylation system. We have studied the assembly of complex I in cultured human cells. This will provide essential information about the nature of complex I deficiencies and will enhance our understanding of mitochondrial diseas...

journal_title：Human molecular genetics

authors： Ugalde C,Vogel R,Huijbens R,Van Den Heuvel B,Smeitink J,Nijtmans L

更新日期：2004-10-15 00:00:00

abstract：:Migraine affects ∼14% of the world's population, though not all predisposing causal risk factors are known. We used electronic health records, genetic co-heritability analysis, and a two-sample Mendelian Randomization (MR) design to determine if elevated serum calcium levels were associated with risk of migraine heada...

journal_title：Human molecular genetics

authors： Yin P,Anttila V,Siewert KM,Palotie A,Davey Smith G,Voight BF

更新日期：2017-02-15 00:00:00

abstract：:The childhood motor neuron disease spinal muscular atrophy (SMA) results from reduced expression of the survival motor neuron (SMN) gene. Previous studies using in vitro model systems and lower organisms have suggested that low levels of Smn protein disrupt prenatal developmental processes in lower motor neurons, infl...

journal_title：Human molecular genetics

authors： Murray LM,Lee S,Bäumer D,Parson SH,Talbot K,Gillingwater TH

更新日期：2010-02-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a neuromuscular disease caused by mutations in the dystrophin gene. The subcellular mechanisms of DMD remain poorly understood and there is currently no curative treatment available. Using a Caenorhabditis elegans model for DMD as a pharmacologic and genetic tool, we found that cyc...

journal_title：Human molecular genetics

authors： Giacomotto J,Brouilly N,Walter L,Mariol MC,Berger J,Ségalat L,Becker TS,Currie PD,Gieseler K

更新日期：2013-11-15 00:00:00

abstract：:Myelin sheath thickness is precisely regulated and essential for rapid propagation of action potentials along myelinated axons. In the peripheral nervous system, extrinsic signals from the axonal protein neuregulin 1 (NRG1) type III regulate Schwann cell fate and myelination. Here we ask if modulating NRG1 type III le...

journal_title：Human molecular genetics

authors： Belin S,Ornaghi F,Shackleford G,Wang J,Scapin C,Lopez-Anido C,Silvestri N,Robertson N,Williamson C,Ishii A,Taveggia C,Svaren J,Bansal R,Schwab MH,Nave K,Fratta P,D'Antonio M,Poitelon Y,Feltri ML,Wrabetz L

更新日期：2019-04-15 00:00:00

abstract：:Retinoblastoma is a non-hereditary as well as an inherited pediatric tumor of the developing retina resulting from the inactivation of both copies of the RB1 tumor suppressor gene. Familial retinoblastoma is a highly penetrant genetic disease that usually develops by carrying germline mutations that inactivate one all...

journal_title：Human molecular genetics

authors： Dehainault C,Garancher A,Castéra L,Cassoux N,Aerts I,Doz F,Desjardins L,Lumbroso L,Montes de Oca R,Almouzni G,Stoppa-Lyonnet D,Pouponnot C,Gauthier-Villars M,Houdayer C

更新日期：2014-10-01 00:00:00

abstract：:Although considered the most common heritable cause of neurodevelopmental disability, precise prevalence figures for the FMR1 mutation in the general population are lacking. Since no fragile X premutation alleles have yet been observed to originate from FMR1 alleles within the normal size range, there is also little i...

journal_title：Human molecular genetics

authors： Reiss AL,Kazazian HH Jr,Krebs CM,McAughan A,Boehm CD,Abrams MT,Nelson DL

更新日期：1994-03-01 00:00:00

abstract：:A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed during human and murine ...

journal_title：Human molecular genetics

authors： Halford S,Wadey R,Roberts C,Daw SC,Whiting JA,O'Donnell H,Dunham I,Bentley D,Lindsay E,Baldini A

更新日期：1993-12-01 00:00:00