Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

abstract：:X-linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of MTM1, which encodes the phosphoinositide lipid phosphatase, myotubularin. The Mtm1 knockout (KO) mouse has a severe phenotype and its short lifespan (8 weeks) makes it a challenge to use as a model in the testing of ...

journal_title：Human molecular genetics

authors： Pierson CR,Dulin-Smith AN,Durban AN,Marshall ML,Marshall JT,Snyder AD,Naiyer N,Gladman JT,Chandler DS,Lawlor MW,Buj-Bello A,Dowling JJ,Beggs AH

更新日期：2012-02-15 00:00:00

abstract：:Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA,...

journal_title：Human molecular genetics

authors： Heidari A,Tongsook C,Najafipour R,Musante L,Vasli N,Garshasbi M,Hu H,Mittal K,McNaughton AJ,Sritharan K,Hudson M,Stehr H,Talebi S,Moradi M,Darvish H,Arshad Rafiq M,Mozhdehipanah H,Rashidinejad A,Samiei S,Ghadami M,

更新日期：2015-10-15 00:00:00

abstract：:An improved understanding of the expression of the cystic fibrosis gene (CFTR) will assist our approach to preventing the organ damage caused by cystic fibrosis (CF). We have studied the expression of CFTR in human fetal tissues at different gestational ages using in situ hybridization to detect CFTR mRNA. CFTR was pr...

journal_title：Human molecular genetics

authors： Tizzano EF,Chitayat D,Buchwald M

更新日期：1993-03-01 00:00:00

abstract：:Peroxisome proliferator-activated receptors (PPARs) are ligand-mediated transcription factors, which control both lipid and energy metabolism and inflammation pathways. PPARγ agonists are effective in the treatment of metabolic diseases and, more recently, neurodegenerative diseases, in which they show promising neuro...

journal_title：Human molecular genetics

authors： Dumont M,Stack C,Elipenahli C,Jainuddin S,Gerges M,Starkova N,Calingasan NY,Yang L,Tampellini D,Starkov AA,Chan RB,Di Paolo G,Pujol A,Beal MF

更新日期：2012-12-01 00:00:00

abstract：:Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive deaf-blinding disorders. Pathophysiology leading to the blinding retinal degeneration in USH is uncertain. There is evidence for involvement of the photoreceptor cilium, photoreceptor synapse, the adjacent retinal pigment epithelium (RPE)...

journal_title：Human molecular genetics

authors： Jacobson SG,Cideciyan AV,Aleman TS,Sumaroka A,Roman AJ,Gardner LM,Prosser HM,Mishra M,Bech-Hansen NT,Herrera W,Schwartz SB,Liu XZ,Kimberling WJ,Steel KP,Williams DS

更新日期：2008-08-01 00:00:00

abstract：:Nuclear Factor-kappaB (NF-kappaB) is a major transcription regulator of immune response, apoptosis and cell-growth control genes, and is upregulated in inflammatory bowel disease (IBD), both ulcerative colitis (UC) and Crohn's disease. The NFKB1 gene encodes the NF-kappaB p105/p50 isoforms. Genome-wide screens in IBD ...

journal_title：Human molecular genetics

authors： Karban AS,Okazaki T,Panhuysen CI,Gallegos T,Potter JJ,Bailey-Wilson JE,Silverberg MS,Duerr RH,Cho JH,Gregersen PK,Wu Y,Achkar JP,Dassopoulos T,Mezey E,Bayless TM,Nouvet FJ,Brant SR

更新日期：2004-01-01 00:00:00

abstract：:To investigate the putative role of BRCA1, a gene involved in hereditary breast and ovarian cancer, in sporadic ovarian tumors among Japanese women, we examined 76 unselected primary ovarian cancers for mutations in the coding region of BRCA1 using the single-strand conformation polymorphism technique. Although no som...

journal_title：Human molecular genetics

authors： Matsushima M,Kobayashi K,Emi M,Saito H,Saito J,Suzumori K,Nakamura Y

更新日期：1995-10-01 00:00:00

abstract：:Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is characterized by microcornea with increased axial length, coloboma of the iris and of the optic disc, and severe myopia. We performed w...

journal_title：Human molecular genetics

authors： Beleggia F,Li Y,Fan J,Elcioğlu NH,Toker E,Wieland T,Maumenee IH,Akarsu NA,Meitinger T,Strom TM,Lang R,Wollnik B

更新日期：2015-04-15 00:00:00

abstract：:We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with an almost equal number of maternal MI and MII errors. The latter ...

journal_title：Human molecular genetics

authors： Bugge M,Collins A,Hertz JM,Eiberg H,Lundsteen C,Brandt CA,Bak M,Hansen C,Delozier CD,Lespinasse J,Tranebjaerg L,Hahnemann JM,Rasmussen K,Bruun-Petersen G,Duprez L,Tommerup N,Petersen MB

更新日期：2007-08-15 00:00:00

abstract：:A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified via positional cloning strategies. We now report messenger RNA expression in fibroblasts from 6 unrelated ALD patients. Four patients lacked the normal 4.2 kb transcript, three of them having deletions of the ALD gene. A fifth patient with a ...

journal_title：Human molecular genetics

authors： Cartier N,Sarde CO,Douar AM,Mosser J,Mandel JL,Aubourg P

更新日期：1993-11-01 00:00:00

abstract：:Deficiency of thymidine kinase 2 (TK2) is a frequent cause of isolated myopathy or encephalomyopathy in children with mitochondrial DNA (mtDNA) depletion. To determine the bases of disease onset, organ specificity and severity of TK2 deficiency, we have carefully characterized Tk2 H126N knockin mice (Tk2-/-). Although...

journal_title：Human molecular genetics

authors： Dorado B,Area E,Akman HO,Hirano M

更新日期：2011-01-01 00:00:00

abstract：:Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in TSC1 or TSC2 resulting in hyperactivity of the mammalian target of rapamycin and disabling brain lesions. These lesions contain misplaced neurons enriched in hypoxia-inducible factor 1a (HIF1a). However, the relationship between TSC1/2 and H...

journal_title：Human molecular genetics

authors： Feliciano DM,Zhang S,Quon JL,Bordey A

更新日期：2013-05-01 00:00:00

abstract：:Retinitis pigmentosa (RP), a genetically heterogeneous group of retinopathies that occur in both non-syndromic and syndromic forms, is caused by mutations in ∼100 genes. Although recent advances in next-generation sequencing have aided in the discovery of novel RP genes, a number of the underlying contributing genes a...

journal_title：Human molecular genetics

authors： Xie YA,Lee W,Cai C,Gambin T,Nõupuu K,Sujirakul T,Ayuso C,Jhangiani S,Muzny D,Boerwinkle E,Gibbs R,Greenstein VC,Lupski JR,Tsang SH,Allikmets R

更新日期：2014-11-01 00:00:00

abstract：:Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here, we use...

journal_title：Human molecular genetics

authors： Miller EE,Kobayashi GS,Musso CM,Allen M,Ishiy FAA,de Caires LC Jr,Goulart E,Griesi-Oliveira K,Zechi-Ceide RM,Richieri-Costa A,Bertola DR,Passos-Bueno MR,Silver DL

更新日期：2017-06-15 00:00:00

abstract：:We have used inbred and congenic rat strains in F(2) segregation studies to discover epistasis in a polygenic model of hypertension. Previously, we have found evidence that the presence of a blood pressure quantitative trait locus (QTL) on chromosome 1 is conditional upon the allele status of chromosome 10. To prove t...

journal_title：Human molecular genetics

authors： Monti J,Plehm R,Schulz H,Ganten D,Kreutz R,Hübner N

更新日期：2003-02-15 00:00:00

abstract：:Twist1 is a basic helix-loop-helix transcription factor, essential during early development in mammals. While Twist1 induces epithelial-to-mesenchymal transition (EMT), here we show that Twist1 overexpression enhances nuclear and mitotic aberrations. This is accompanied by an increase in whole chromosomal copy number ...

journal_title：Human molecular genetics

authors： Khot M,Sreekumar D,Jahagirdar S,Kulkarni A,Hari K,Faseela EE,Sabarinathan R,Jolly MK,Sengupta K

更新日期：2020-06-27 00:00:00

abstract：:Osteoarthritis (OA) is a common, painful and debilitating disease of articulating joints resulting from the age-associated loss of cartilage. Well-powered genetic studies have identified a number of DNA polymorphisms that are associated with OA susceptibility. Like most complex trait loci, these OA loci are thought to...

journal_title：Human molecular genetics

authors： Rushton MD,Reynard LN,Young DA,Shepherd C,Aubourg G,Gee F,Darlay R,Deehan D,Cordell HJ,Loughlin J

更新日期：2015-12-20 00:00:00

abstract：:OPA1 mutations are the major cause of dominant optic atrophy (DOA) and the syndromic form DOA plus, pathologies for which there is no established cure. We used a 'drug repurposing' approach to identify FDA-approved molecules able to rescue the mitochondrial dysfunctions induced by OPA1 mutations. We screened two diffe...

journal_title：Human molecular genetics

authors： Aleo SJ,Del Dotto V,Fogazza M,Maresca A,Lodi T,Goffrini P,Ghelli A,Rugolo M,Carelli V,Baruffini E,Zanna C

更新日期：2021-01-21 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：: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：:Human GM1-gangliosidosis is caused by a genetic deficiency of lysosomal acid beta-galactosidase (beta-gal). The disease manifests itself either as an infantile, juvenile or adult form and is primarily a neurological disorder with progressive brain dysfunction. A mouse model lacking a functional beta-gal gene has been ...

journal_title：Human molecular genetics

authors： Hahn CN,del Pilar Martin M,Schröder M,Vanier MT,Hara Y,Suzuki K,Suzuki K,d'Azzo A

更新日期：1997-02-01 00:00:00

abstract：:Serum total immunoglobulin E (IgE) is a critical intermediate phenotype of allergic diseases. Although total IgE exhibits sexual dimorphism in humans (with males demonstrating higher IgE than females), the molecular basis of this difference is unknown. A genome-wide scan of 380 short-tandem repeat (STR) markers was pe...

journal_title：Human molecular genetics

authors： Raby BA,Soto-Quiros ME,Avila L,Lake SL,Murphy A,Liang C,Fournier E,Spesny M,Sylvia JS,Verner A,Hudson TJ,Klanderman BJ,Freimer NB,Silverman EK,Celedón JC

更新日期：2007-02-01 00:00:00

abstract：:The maintenance of mitochondrial DNA (mtDNA) is critically dependent upon polymerase-gamma (pol-gamma), encoded by the nuclear gene POLG. Over the last 5 years, it has become clear that mutations of POLG are a major cause of human disease. Secondary mtDNA defects characterize these disorders, with mtDNA depletion, mul...

journal_title：Human molecular genetics

authors： Hudson G,Chinnery PF

更新日期：2006-10-15 00:00:00

abstract：:Friedreich ataxia is commonly caused by large expansions of a GAA triplet-repeat (GAA-TR) sequence in the first intron of the FRDA gene. We used small-pool PCR to analyze somatic variability among 7190 individual FRDA molecules from peripheral blood DNA of subjects carrying 12 different expanded alleles, ranging in si...

journal_title：Human molecular genetics

authors： Sharma R,Bhatti S,Gomez M,Clark RM,Murray C,Ashizawa T,Bidichandani SI

更新日期：2002-09-01 00:00:00

abstract：:DNA methylation (DNAm) has been linked to changes in chromatin structure, gene expression and disease. The DNAm level can be affected by genetic variation; although, how this differs by CpG dinucleotide density and genic location of the DNAm site is not well understood. Moreover, the effect of disease causing variants...

journal_title：Human molecular genetics

authors： Rowlatt A,Hernández-Suárez G,Sanabria-Salas MC,Serrano-López M,Rawlik K,Hernandez-Illan E,Alenda C,Castillejo A,Soto JL,Haley CS,Tenesa A

更新日期：2016-06-15 00:00:00

abstract：:Mitochondrial dysfunction plays an important role in the etiology of neurodegenerative diseases. However, the progressive nature of neuronal loss in genetic models of mitochondrial dysfunction suggests the presence of compensatory mechanisms promoting neuronal survival under these conditions. Here, we identified the e...

journal_title：Human molecular genetics

authors： Germain M,Nguyen AP,Khacho M,Patten DA,Screaton RA,Park DS,Slack RS

更新日期：2013-03-01 00:00:00

abstract：:The DNA mismatch repair genes MSH2 and MLH1 have been shown to account for a major share of hereditary non-polyposis colorectal cancer (HNPCC). We searched for germline mutations in these genes in 35 HNPCC kindreds fulfilling the Amsterdam diagnostic criteria and in a further 20 kindreds with an average of four affect...

journal_title：Human molecular genetics

authors： Nyström-Lahti M,Wu Y,Moisio AL,Hofstra RM,Osinga J,Mecklin JP,Järvinen HJ,Leisti J,Buys CH,de la Chapelle A,Peltomäki P

更新日期：1996-06-01 00:00:00

abstract：:Human homologues of mouse cancer modifier genes may play a role in cancer risk and prognosis. A proportion of the familial risk of common cancers may be attributable to variants in such genes, each contributing to a small effect. The protein tyrosine phosphatase receptor type J (PTPRJ) has been recently identified as ...

journal_title：Human molecular genetics

authors： Lesueur F,Pharoah PD,Laing S,Ahmed S,Jordan C,Smith PL,Luben R,Wareham NJ,Easton DF,Dunning AM,Ponder BA

更新日期：2005-08-15 00:00:00

abstract：:Ciliary trafficking defects underlie the pathogenesis of severe human ciliopathies, including Joubert Syndrome (JBTS), Bardet-Biedl Syndrome, and some forms of retinitis pigmentosa (RP). Mutations in the ciliary protein RPGR (retinitis pigmentosa GTPase regulator) are common causes of RP-associated photoreceptor degen...

journal_title：Human molecular genetics

authors： Rao KN,Zhang W,Li L,Anand M,Khanna H

更新日期：2016-10-15 00:00:00

abstract：:We have constructed a long-range restriction map of the region on chromosome 4q that contains the gene for facioscapulohumeral muscular dystrophy (FSHD). This region contains the linkage group cen ... D4S163-D4S139-D4F35S1-D4F104S1-FSHD ... 4qter, which spans a genetic distance of about 5 cM. Pulse field gel electroph...

journal_title：Human molecular genetics

authors： Wijmenga C,Wright TJ,Baan MJ,Padberg GW,Williamson R,van Ommen GJ,Hewitt JE,Hofker MH,Frants RR

更新日期：1993-10-01 00:00:00