Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.

abstract：:Slow channel congenital myasthenic syndrome (SCCMS) is a disorder of the neuromuscular synapse caused by dominantly inherited missense mutations in genes that encode the muscle acetylcholine receptor (AChR) subunits. Here we investigate the potential of post-transcriptional gene silencing using RNA interference (RNAi)...

journal_title：Human molecular genetics

authors： Abdelgany A,Wood M,Beeson D

更新日期：2003-10-15 00:00:00

abstract：:Immunoglobulins play an essential part in the immune system, and immunoglobulin deficiencies can have profound medical consequences. The genetic control and regulation of the immunoglobulin response is therefore of interest. Previous investigations have identified a number of loci influencing total and specific IgE le...

journal_title：Human molecular genetics

authors： Wiltshire S,Bhattacharyya S,Faux JA,Leaves NI,Daniels SE,Moffatt MF,James A,Musk AW,Cookson WO

更新日期：1998-01-01 00:00:00

abstract：:To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically distinct forms (LGMD2A to LGMD2F) were studied with antibodies directed against four sarcoglycan subunits (alpha-, beta-, gamma-, delta-SG), dystrophin, beta-dystroglycan (beta-DG) and merosin. ...

journal_title：Human molecular genetics

authors： Vainzof M,Passos-Bueno MR,Canovas M,Moreira ES,Pavanello RC,Marie SK,Anderson LV,Bonnemann CG,McNally EM,Nigro V,Kunkel LM,Zatz M

更新日期：1996-12-01 00:00:00

abstract：:X-linked dyskeratosis congenita (X-DC) is caused by mutations in the housekeeping nucleolar protein dyskerin. Amino acid changes associated with X-DC are remarkably heterogeneous. Peripheral mononuclear blood cells and fibroblasts isolated from X-DC patients harbor lower steady-state telomerase RNA (TER) levels and sh...

journal_title：Human molecular genetics

authors： Zeng XL,Thumati NR,Fleisig HB,Hukezalie KR,Savage SA,Giri N,Alter BP,Wong JM

更新日期：2012-02-15 00:00:00

abstract：:Human gene expression traits have been shown to be dependent on gender, age and time of day in blood and other tissues. However, other factors that may impact gene expression have not been systematically explored. For example, in studies linking blood gene expression to obesity related traits, whether the fasted or fe...

journal_title：Human molecular genetics

authors： Leonardson AS,Zhu J,Chen Y,Wang K,Lamb JR,Reitman M,Emilsson V,Schadt EE

更新日期：2010-01-01 00:00:00

abstract：:Several studies have shown that testis-specific gene antigen (TSGA10) could be considered as a cancer testis antigen (CTA), except for one study which has identified it as a tumor suppressor gene. In order to exert its function, TSGA10 interacts closely with hypoxia inducible factor (HIF-1α) and since this interaction...

journal_title：Human molecular genetics

authors： Mansouri K,Mostafie A,Rezazadeh D,Shahlaei M,Modarressi MH

更新日期：2016-01-15 00:00:00

abstract：:The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype consisting of three non-synonymous polymorphisms (C157R, M378V, M681T) ...

journal_title：Human molecular genetics

authors： Suzuki Y,Pasch A,Bonny O,Mohaupt MG,Hediger MA,Frey FJ

更新日期：2008-06-01 00:00:00

abstract：:In humans, poor nutrition, malabsorption and variation in cobalamin (vitamin B12) metabolic genes are associated with hematological, neurological and developmental pathologies. Cobalamin is transported from blood into tissues via the transcobalamin (TC) receptor encoded by the CD320 gene. We created mice carrying a ta...

journal_title：Human molecular genetics

authors： Bernard DJ,Pangilinan FJ,Cheng J,Molloy AM,Brody LC

更新日期：2018-10-15 00:00:00

abstract：:Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 repeats are a genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction with TDP-43. Given ...

journal_title：Human molecular genetics

authors： Ross OA,Rutherford NJ,Baker M,Soto-Ortolaza AI,Carrasquillo MM,DeJesus-Hernandez M,Adamson J,Li M,Volkening K,Finger E,Seeley WW,Hatanpaa KJ,Lomen-Hoerth C,Kertesz A,Bigio EH,Lippa C,Woodruff BK,Knopman DS,White CL 3r

更新日期：2011-08-15 00:00:00

abstract：:DNA replication is a critical step for cells because of the propensity of replication forks to stall, as a consequence either of endogenous DNA damage or of the propensity of repeated sequences to form tertiary structures, which can impede fork progression. Moreover, as a result of stalled replication fork processing,...

journal_title：Human molecular genetics

authors： Franchitto A,Pichierri P

更新日期：2002-10-01 00:00:00

abstract：:Congenital heart defects comprise the most common form of major birth defects, affecting 0.7% of all newborn infants. Jacobsen syndrome (11q-) is a rare chromosomal disorder caused by deletions in distal 11q. We have previously determined that a wide spectrum of the most common congenital heart defects occur in 11q-, ...

journal_title：Human molecular genetics

authors： Ye M,Coldren C,Liang X,Mattina T,Goldmuntz E,Benson DW,Ivy D,Perryman MB,Garrett-Sinha LA,Grossfeld P

更新日期：2010-02-15 00:00:00

abstract：:Ocular albinism type 1 (OA1) is an X-linked recessive disorder characterized by a major impairment of visual acuity, nystagmus, strabismus, photophobia and retinal hypopigmentation. From the analysis of patients carrying deletions and translocations involving the distal short arm of the X chromosome (Xp22.3) we have i...

journal_title：Human molecular genetics

authors： Schiaffino MV,Bassi MT,Rugarli EI,Renieri A,Galli L,Ballabio A

更新日期：1995-03-01 00:00:00

abstract：:The molecular genetic basis that leads to Lewy Body (LB) pathology in 15-20% of Alzheimer disease cases (LBV/AD) was largely unknown. Alpha-synuclein (SNCA) and Leucine-rich repeat kinase2 (LRRK2) have been implicated in the pathogenesis of Parkinson's disease (PD), the prototype of LB spectrum disorders. We tested th...

journal_title：Human molecular genetics

authors： Linnertz C,Lutz MW,Ervin JF,Allen J,Miller NR,Welsh-Bohmer KA,Roses AD,Chiba-Falek O

更新日期：2014-09-15 00:00:00

abstract：:Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod dystrophy (CRD). Assuming pseudodominant (recessive) inheritance of allelic defects, linkage analysis positioned the causal gene at 1p21-p13 (lod score 4.22), a...

journal_title：Human molecular genetics

authors： Cremers FP,van de Pol DJ,van Driel M,den Hollander AI,van Haren FJ,Knoers NV,Tijmes N,Bergen AA,Rohrschneider K,Blankenagel A,Pinckers AJ,Deutman AF,Hoyng CB

更新日期：1998-03-01 00:00:00

abstract：:Gene mutations that encode retinoschisin (RS1) cause X-linked retinoschisis (XLRS), a form of juvenile macular and retinal degeneration that affects males. RS1 is an adhesive protein which is proposed to preserve the structural and functional integrity of the retina, but there is very little evidence of the mechanism ...

journal_title：Human molecular genetics

authors： Sergeev YV,Caruso RC,Meltzer MR,Smaoui N,MacDonald IM,Sieving PA

更新日期：2010-04-01 00:00:00

abstract：:The tumour suppressor gene PTEN encodes a dual-specificity phosphatase that recognizes protein substrates and phosphatidylinositol-3,4,5-triphosphate. PTEN seems to play multiple roles in tumour suppression and the blockade of phosphoinositide-3-kinase signalling is important for its growth suppressive effects, althou...

journal_title：Human molecular genetics

authors： Weng LP,Smith WM,Brown JL,Eng C

更新日期：2001-03-15 00:00:00

abstract：:Familial infantile myasthenia is an autosomal recessive disorder, recently classified as congenital myasthenic syndrome type Ia. Onset of symptoms is at birth to early childhood with significant myasthenic weakness and possible respiratory distress, followed later in life by symptoms of mild to moderate myasthenia. Th...

journal_title：Human molecular genetics

authors： Christodoulou K,Tsingis M,Deymeer F,Serdaroglu P,Ozdemir C,Al-Shehab A,Bairactaris C,Mavromatis I,Mylonas I,Evoli A,Kyriallis K,Middleton LT

更新日期：1997-04-01 00:00:00

abstract：:Mutations in subunits or regulators of cohesin cause a spectrum of disorders in humans known as the 'cohesinopathies'. Cohesinopathies, including the best known example Cornelia de Lange syndrome (CdLS), are characterized by broad spectrum, multifactorial developmental anomalies. Heart defects occur at high frequency ...

journal_title：Human molecular genetics

authors： Schuster K,Leeke B,Meier M,Wang Y,Newman T,Burgess S,Horsfield JA

更新日期：2015-12-15 00:00:00

abstract：:It is now well established that the genomic landscape of DNA methylation (DNAm) gets altered as a function of age, a process we here call 'epigenetic drift'. The biological, functional, clinical and evolutionary significance of this epigenetic drift, however, remains unclear. We here provide a brief review of epigenet...

journal_title：Human molecular genetics

authors： Teschendorff AE,West J,Beck S

更新日期：2013-10-15 00:00:00

abstract：:Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in either of two genes, TSC1 or TSC2, resulting in the constitutive activation of the mammalian target of rapamycin complex 1 (mTORC1). mTOR inhibitors are now considered the treatment of choice for TSC disease. A major path...

journal_title：Human molecular genetics

authors： Magini A,Polchi A,Di Meo D,Mariucci G,Sagini K,De Marco F,Cassano T,Giovagnoli S,Dolcetta D,Emiliani C

更新日期：2017-09-01 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：:17p13.3 microduplication syndrome is a newly identified genetic disorder characterized by duplications in the 17p13.3 chromosome locus, resulting in a variety of disorders including autism spectrum disorder (ASD). Importantly, a minimum duplication region has been defined, and this region exclusively contains the gene...

journal_title：Human molecular genetics

authors： Cornell B,Wachi T,Zhukarev V,Toyo-Oka K

更新日期：2016-10-15 00:00:00

abstract：:Cystic fibrosis (CF) is a multiorgan recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Gene therapy efforts have focused on treating the lung, since it manifests the most significant life-threatening disease. Over two decades have past since the first...

journal_title：Human molecular genetics

authors： Yan Z,McCray PB Jr,Engelhardt JF

更新日期：2019-10-01 00:00:00

abstract：:Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in congenital malformations, skeletal dysplasia and nervous system anomalies. Polyalanine stretches have been predicted in ...

journal_title：Human molecular genetics

authors： Amiel J,Trochet D,Clément-Ziza M,Munnich A,Lyonnet S

更新日期：2004-10-01 00:00:00

abstract：:Huntington's disease (HD) is an autosomal inherited neurological disease caused by a CAG-repeat expansion in the first exon of huntingtin gene encoding for the huntingtin protein (Htt). In HD, there is an accumulation of intracellular aggregates of mutant Htt that negatively influence cellular functions. The aggregate...

journal_title：Human molecular genetics

authors： Hyrskyluoto A,Bruelle C,Lundh SH,Do HT,Kivinen J,Rappou E,Reijonen S,Waltimo T,Petersén Å,Lindholm D,Korhonen L

更新日期：2014-11-15 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：:While constructing a cDNA library of human embryos, we have isolated a clone homologous to jumonji, a mouse gene required for neural tube formation. We have determined the complete coding sequence of the human homologue (JMJ) and deduced the amino acid sequence of the putative protein. We show here that human and mous...

journal_title：Human molecular genetics

authors： Bergé-Lefranc JL,Jay P,Massacrier A,Cau P,Mattei MG,Bauer S,Marsollier C,Berta P,Fontes M

更新日期：1996-10-01 00:00:00

abstract：:The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD) is causally related to a short Eco RI fragment detected by probe p13E-11. This remnant fragment is the result of a deletion of an integral number of tandemly arrayed 3.3 kb repeat units (D4Z4) on 4q35. Despite intensive efforts, no transcrib...

journal_title：Human molecular genetics

authors： Lemmers RJ,van der Maarel SM,van Deutekom JC,van der Wielen MJ,Deidda G,Dauwerse HG,Hewitt J,Hofker M,Bakker E,Padberg GW,Frants RR

更新日期：1998-08-01 00:00:00

abstract：:Mutations in DNAJC13 gene have been linked to familial form of Parkinson's disease (PD) with Lewy pathology. DNAJC13 is an endosome-related protein and believed to regulate endosomal membrane trafficking. However, the mechanistic link between DNAJC13 mutation and α-synuclein (αSYN) pathology toward neurodegeneration r...

journal_title：Human molecular genetics

authors： Yoshida S,Hasegawa T,Suzuki M,Sugeno N,Kobayashi J,Ueyama M,Fukuda M,Ido-Fujibayashi A,Sekiguchi K,Ezura M,Kikuchi A,Baba T,Takeda A,Mochizuki H,Nagai Y,Aoki M

更新日期：2018-03-01 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