Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.

abstract：:While the presence of a lipoyl-containing protein (protein X) separate from lipoyl transacetylase in the pyruvate dehydrogenase complex (PDC) has been known for some time, until recently only the cDNA for the yeast enzyme has been cloned. We have cloned, sequenced and characterized the cDNA encoding the human protein ...

journal_title：Human molecular genetics

authors： Ling M,McEachern G,Seyda A,MacKay N,Scherer SW,Bratinova S,Beatty B,Giovannucci-Uzielli ML,Robinson BH

更新日期：1998-03-01 00:00:00

abstract：:Genome-wide association studies (GWASs) of renal cell cancer (RCC) have identified four susceptibility loci thus far. To identify an additional RCC common susceptibility locus, we conducted a GWAS and performed a meta-analysis with published GWASs (totalling 2215 cases and 8566 controls of European background) and fol...

journal_title：Human molecular genetics

authors： Henrion M,Frampton M,Scelo G,Purdue M,Ye Y,Broderick P,Ritchie A,Kaplan R,Meade A,McKay J,Johansson M,Lathrop M,Larkin J,Rothman N,Wang Z,Chow WH,Stevens VL,Ryan Diver W,Gapstur SM,Albanes D,Virtamo J,Wu X,Bre

更新日期：2013-02-15 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3-5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase ( SOD1 ), which catalyses the dismutation of the superoxide...

journal_title：Human molecular genetics

authors： Al-Chalabi A,Andersen PM,Chioza B,Shaw C,Sham PC,Robberecht W,Matthijs G,Camu W,Marklund SL,Forsgren L,Rouleau G,Laing NG,Hurse PV,Siddique T,Leigh PN,Powell JF

更新日期：1998-12-01 00:00:00

abstract：:Gaucher disease, a prevalent lysosomal storage disease (LSD), is caused by insufficient activity of acid β-glucosidase (GCase) and the resultant glucosylceramide (GC)/glucosylsphingosine (GS) accumulation in visceral organs (Type 1) and the central nervous system (Types 2 and 3). Recent clinical and genetic studies im...

journal_title：Human molecular genetics

authors： Xu YH,Xu K,Sun Y,Liou B,Quinn B,Li RH,Xue L,Zhang W,Setchell KD,Witte D,Grabowski GA

更新日期：2014-08-01 00:00:00

abstract：:During postnatal development, neuronal activity controls the remodeling of initially imprecise neuronal connections through the regulation of gene expression. MeCP2 binds to methylated DNA and modulates gene expression during neuronal development and MECP2 mutation causes the autistic disorder Rett syndrome. To invest...

journal_title：Human molecular genetics

authors： Lee W,Yun JM,Woods R,Dunaway K,Yasui DH,Lasalle JM,Gong Q

更新日期：2014-12-01 00:00:00

abstract：:Peripheral sensory perception is established through an elaborate network of specialized neurons that mediate the translation of extraorganismal stimuli through the use of a broad array of receptors and downstream effector molecules. Studies of human genetic disorders, as well as mouse and other animal models, have id...

journal_title：Human molecular genetics

authors： Tan PL,Katsanis N

更新日期：2009-10-15 00:00:00

abstract：:The human genome is often portrayed as consisting of three sequence types, each distinguished by their mode of evolution. Purifying selection is estimated to act on 2.5-5.0% of the genome, whereas virtually all remaining sequence is considered to have evolved neutrally and to be devoid of functionality. The third mode...

journal_title：Human molecular genetics

authors： Ponting CP,Lunter G

更新日期：2006-10-15 00:00:00

abstract：:Chediak-Higashi syndrome is an autosomal recessive, immune deficiency disorder of human (CHS) and mouse (beige, bg) that is characterized by abnormal intracellular protein transport to, and from, the lysosome. Recent reports have described the identification of homologous genes that are mutated in human CHS and bg mic...

journal_title：Human molecular genetics

authors： Barbosa MD,Barrat FJ,Tchernev VT,Nguyen QA,Mishra VS,Colman SD,Pastural E,Dufourcq-Lagelouse R,Fischer A,Holcombe RF,Wallace MR,Brandt SJ,de Saint Basile G,Kingsmore SF

更新日期：1997-07-01 00:00:00

abstract：:Glial cell line-derived neurotrophic factor (GDNF), a distant member of the TGF-beta superfamily, is a survival factor for various neurons, making it a potential therapeutic agent for neurodegenerative disorders. Here we present the genomic structure and characterization of the promoter of the human GDNF (hGDNF) gene....

journal_title：Human molecular genetics

authors： Grimm L,Holinski-Feder E,Teodoridis J,Scheffer B,Schindelhauer D,Meitinger T,Ueffing M

更新日期：1998-11-01 00:00:00

abstract：:Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease caused by autosomal recessive mutations in the GAN gene resulting in a loss of a ubiquitously expressed protein, gigaxonin. Gene replacement therapy is a promising strategy for treatment of the disease; however, the effectiveness and safety of gi...

journal_title：Human molecular genetics

authors： Johnson-Kerner BL,Ahmad FS,Diaz AG,Greene JP,Gray SJ,Samulski RJ,Chung WK,Van Coster R,Maertens P,Noggle SA,Henderson CE,Wichterle H

更新日期：2015-03-01 00:00:00

abstract：:We examined the imprinting status of the insulin-like growth factor II gene (IGF2) in a series of 20 human breast disease samples to determine if disrupted imprinting (as evidenced by biallelic expression), was a demonstrable mechanism of altered gene expression. These samples included benign (n = 7) and malignant bre...

journal_title：Human molecular genetics

authors： McCann AH,Miller N,O'Meara A,Pedersen I,Keogh K,Gorey T,Dervan PA

更新日期：1996-08-01 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：:The aim of this study was to investigate the possible role of STAT4 gene in the genetic predisposition to systemic sclerosis (SSc) susceptibility or clinical phenotype. A total of 1317 SSc patients [896 with limited cutaneous SSc (lcSSc) and 421 with diffuse cutaneous SSc (dcSSc)] and 3113 healthy controls, from an in...

journal_title：Human molecular genetics

authors： Rueda B,Broen J,Simeon C,Hesselstrand R,Diaz B,Suárez H,Ortego-Centeno N,Riemekasten G,Fonollosa V,Vonk MC,van den Hoogen FH,Sanchez-Román J,Aguirre-Zamorano MA,García-Portales R,Pros A,Camps MT,Gonzalez-Gay MA,Coenen M

更新日期：2009-06-01 00:00:00

abstract：:The FKHR gene, which contains a forkhead DNA-binding motif, is fused to either PAX3 or PAX7 by the t(2;13) or t(1;13) translocation in alveolar rhabdomyosarcoma,respectively. These tumors express chimeric transcripts encoding the N-terminal portion of either PAX protein fused to the C-terminal portion of FKHR. To unde...

journal_title：Human molecular genetics

authors： Davis RJ,Bennicelli JL,Macina RA,Nycum LM,Biegel JA,Barr FG

更新日期：1995-12-01 00:00:00

abstract：:Epilepsy is a serious and common neurological disorder. Expression quantitative loci (eQTL) analysis is a vital aid for the identification and interpretation of disease-risk loci. Many eQTLs operate in a tissue- and condition-specific manner. We have performed the first genome-wide cis-eQTL analysis of human hippocamp...

journal_title：Human molecular genetics

authors： Mirza N,Appleton R,Burn S,du Plessis D,Duncan R,Farah JO,Feenstra B,Hviid A,Josan V,Mohanraj R,Shukralla A,Sills GJ,Marson AG,Pirmohamed M

更新日期：2017-05-01 00:00:00

abstract：:Mitochondrial dysfunction and oxidative stress are central to the molecular pathology of many human diseases. Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency (RR-MADD) is in most cases caused by variations in the gene coding for electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO). Curr...

journal_title：Human molecular genetics

authors： Cornelius N,Corydon TJ,Gregersen N,Olsen RK

更新日期：2014-08-15 00:00:00

abstract：:We have identified a rare mutation (T-45C) in the low density lipoprotein (LDL)-receptor gene in a Welsh patient with a clinical diagnosis of heterozygous familial hypercholesterolaemia (FH). The mutation is in the proximal Sp1 binding site in repeat 3 of the 42 bp region of the promoter required for sterol-dependent ...

journal_title：Human molecular genetics

authors： Sun XM,Neuwirth C,Wade DP,Knight BL,Soutar AK

更新日期：1995-11-01 00:00:00

abstract：:The breast cancer susceptibility gene BRCA2 encodes a protein of 3418 amino acids which does not exhibit substantial sequence similarity to any other protein in the public databases. A dot matrix comparison of BRCA2 with itself revealed an eight times repeated motif in the segment of the protein encoded by exon 11. As...

journal_title：Human molecular genetics

authors： Bignell G,Micklem G,Stratton MR,Ashworth A,Wooster R

更新日期：1997-01-01 00:00:00

abstract：:Collagen prolyl 4-hydroxylases (C-P4Hs) play a central role in the formation and stabilization of the triple helical domain of collagens. P4HA1 encodes the catalytic α(I) subunit of the main C-P4H isoenzyme (C-P4H-I). We now report human bi-allelic P4HA1 mutations in a family with a congenital-onset disorder of connec...

journal_title：Human molecular genetics

authors： Zou Y,Donkervoort S,Salo AM,Foley AR,Barnes AM,Hu Y,Makareeva E,Leach ME,Mohassel P,Dastgir J,Deardorff MA,Cohn RD,DiNonno WO,Malfait F,Lek M,Leikin S,Marini JC,Myllyharju J,Bönnemann CG

更新日期：2017-06-15 00:00:00

abstract：:Recent studies have made great strides towards identifying putative genetic events underlying the evolution of the human brain and its emergent cognitive capacities. One of the most intriguing findings is the recurrent identification of adaptive evolution in genes associated with primary microcephaly, a developmental ...

journal_title：Human molecular genetics

authors： Mekel-Bobrov N,Posthuma D,Gilbert SL,Lind P,Gosso MF,Luciano M,Harris SE,Bates TC,Polderman TJ,Whalley LJ,Fox H,Starr JM,Evans PD,Montgomery GW,Fernandes C,Heutink P,Martin NG,Boomsma DI,Deary IJ,Wright MJ,de Geus

更新日期：2007-03-15 00:00:00

abstract：:An amphibian homologue of the human cystic fibrosis transmembrane conductance regulator (CFTR) gene has been isolated from Xenopus laevis by polymerase chain reaction (PCR) amplification. The 4455bp sequence encodes a predicted polypeptide of 1485 amino acids which has an overall homology at the amino acid level of 77...

journal_title：Human molecular genetics

authors： Tucker SJ,Tannahill D,Higgins CF

更新日期：1992-05-01 00:00:00

abstract：:Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified three novel disease-associated missense mutations in the alanyl-tRNA synthetase...

journal_title：Human molecular genetics

authors： Weterman MAJ,Kuo M,Kenter SB,Gordillo S,Karjosukarso DW,Takase R,Bronk M,Oprescu S,van Ruissen F,Witteveen RJW,Bienfait HME,Breuning M,Verhamme C,Hou YM,de Visser M,Antonellis A,Baas F

更新日期：2018-12-01 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：:Dominant mutations in the gene encoding the ubiquitously-expressed splicing factor PRPF31 cause retinitis pigmentosa, a form of hereditary retinal degeneration, with reduced penetrance. We and others have previously shown that penetrance is tightly correlated with PRPF31 expression, as lymphoblastoid cell lines (LCLs)...

journal_title：Human molecular genetics

authors： Rio Frio T,Civic N,Ransijn A,Beckmann JS,Rivolta C

更新日期：2008-10-15 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：: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：:Ataxia oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia. Recent evidence suggests that the protein defective in this syndrome, senataxin (SETX), functions in RNA processing to protect the integrity of the genome. To date, only patient-derived lymphoblastoid cells, fibroblasts and SETX k...

journal_title：Human molecular genetics

authors： Becherel OJ,Sun J,Yeo AJ,Nayler S,Fogel BL,Gao F,Coppola G,Criscuolo C,De Michele G,Wolvetang E,Lavin MF

更新日期：2015-10-15 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：:Cystathionine beta-synthase (CBS) deficiency is the major cause of homocystinuria in humans. The most frequent symptoms of homocystinuria include: dislocated optic lenses, vascular disorders, skeletal abnormalities and mental retardation. Patients with this deficiency have elevated levels of homocyst(e)ine, methionine...

journal_title：Human molecular genetics

authors： Kraus JP,Le K,Swaroop M,Ohura T,Tahara T,Rosenberg LE,Roper MD,Kozich V

更新日期：1993-10-01 00:00:00

abstract：:CDH3/P-cadherin is a classical cadherin. Overexpression of which has been associated with proliferative lesions of high histological grade, decreased cell polarity and poor survival of patients with breast cancer. In vitro studies showed that it can be up-regulated by ICI 182,780, suggesting that the lack of ERalpha s...

journal_title：Human molecular genetics

authors： Albergaria A,Ribeiro AS,Pinho S,Milanezi F,Carneiro V,Sousa B,Sousa S,Oliveira C,Machado JC,Seruca R,Paredes J,Schmitt F

更新日期：2010-07-01 00:00:00