Disrupted-in-schizophrenia 1 and neuregulin 1 are required for the specification of oligodendrocytes and neurones in the zebrafish brain.

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：:Functional impairment of the human homeobox gene SHOX causes short stature and Madelung deformity in Leri-Weill syndrome (LWS) and has recently been implicated in additional skeletal malformations frequently observed in Turner syndrome. To enhance our understanding of the underlying mechanism of action, we have establ...

journal_title：Human molecular genetics

authors： Rao E,Blaschke RJ,Marchini A,Niesler B,Burnett M,Rappold GA

更新日期：2001-12-15 00:00:00

abstract：:Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the prese...

journal_title：Human molecular genetics

authors： Casademont J,Barrientos A,Cardellach F,Rötig A,Grau JM,Montoya J,Beltrán B,Cervantes F,Rozman C,Estivill X

更新日期：1994-11-01 00:00:00

abstract：:An increased rate of de novo copy number variants (CNVs) has been found in schizophrenia (SZ), autism and developmental delay. An increased rate has also been reported in bipolar affective disorder (BD). Here, in a larger BD sample, we aimed to replicate these findings and compare de novo CNVs between SZ and BD. We us...

journal_title：Human molecular genetics

authors： Georgieva L,Rees E,Moran JL,Chambert KD,Milanova V,Craddock N,Purcell S,Sklar P,McCarroll S,Holmans P,O'Donovan MC,Owen MJ,Kirov G

更新日期：2014-12-15 00:00:00

abstract：:Galphaq, encoded by the human GNAQ gene, is an effector subunit of the Gq heterotrimeric G-protein and the convergence point for signaling of multiple Gq-coupled neurohormonal receptors. To identify naturally occurring mutations that could modify GNAQ transcription, we examined genomic DNA isolated from 355 normal sub...

journal_title：Human molecular genetics

authors： Liggett SB,Kelly RJ,Parekh RR,Matkovich SJ,Benner BJ,Hahn HS,Syed FM,Galvez AS,Case KL,McGuire N,Odley AM,Sparks L,Kardia SL,Dorn GW 2nd

更新日期：2007-11-15 00:00:00

abstract：:Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Individuals with this disorder also have an increased incidence of hypertension, diabetes mellitus, and renal and cardiac anomalies. We previously identified a locu...

journal_title：Human molecular genetics

authors： Sheffield VC,Carmi R,Kwitek-Black A,Rokhlina T,Nishimura D,Duyk GM,Elbedour K,Sunden SL,Stone EM

更新日期：1994-08-01 00:00:00

abstract：:The autosomal-recessive mutation hydrocephalus3 (hy3) results in lethal communicating hydrocephalus with perinatal onset. We recently described a hydrocephalus-inducing transgenic insertional mutation, OVE459, which represents a new allele of hy3. Direct cDNA selection performed on a wild-type mouse BAC clone spanning...

journal_title：Human molecular genetics

authors： Davy BE,Robinson ML

更新日期：2003-05-15 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：:The first 17 amino acids of Huntington's disease (HD) protein, huntingtin, comprise an amphipathic alpha-helical domain that can target huntingtin to the endoplasmic reticulum (ER). N17 is phosphorylated at two serines, shown to be important for disease development in genetic mouse models, and shown to be modified by ...

journal_title：Human molecular genetics

authors： Maiuri T,Woloshansky T,Xia J,Truant R

更新日期：2013-04-01 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：:Multiple mitochondrial DNA deletions are associated with clinically heterogeneous disorders transmitted as mendelian traits. Dominant missense mutations were found in the gene encoding the heart and skeletal muscle-specific isoform of the adenine nucleotide translocator (ANT1) in families with autosomal dominant progr...

journal_title：Human molecular genetics

authors： Palmieri L,Alberio S,Pisano I,Lodi T,Meznaric-Petrusa M,Zidar J,Santoro A,Scarcia P,Fontanesi F,Lamantea E,Ferrero I,Zeviani M

更新日期：2005-10-15 00:00:00

abstract：:The Vesicle-associated membrane protein (VAMP)-Associated Protein B (VAPB) is the causative gene of amyotrophic lateral sclerosis 8 (ALS8) in humans. Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by selective death of motor neurons leading to spasticity, muscle atrophy an...

journal_title：Human molecular genetics

authors： Forrest S,Chai A,Sanhueza M,Marescotti M,Parry K,Georgiev A,Sahota V,Mendez-Castro R,Pennetta G

更新日期：2013-07-01 00:00:00

abstract：:Fatty liver has been associated with unfavourable metabolic changes in circulation. To provide insights in fatty liver-related metabolic deviations, we compared metabolic association profile of fatty liver versus metabolic association profiles of genotypes increasing the risk of non-alcoholic fatty liver disease (NAFL...

journal_title：Human molecular genetics

authors： Sliz E,Sebert S,Würtz P,Kangas AJ,Soininen P,Lehtimäki T,Kähönen M,Viikari J,Männikkö M,Ala-Korpela M,Raitakari OT,Kettunen J

更新日期：2018-06-15 00:00:00

abstract：:Lysosomal neuraminidase is the key enzyme for the intralysosomal catabolism of sialylated glycoconjugates and is deficient in two neurodegenerative lysosomal disorders, sialidosis and galactosialidosis. Here we report the identification of eight novel mutations in the neuraminidase gene of 11 sialidosis patients with ...

journal_title：Human molecular genetics

authors： Bonten EJ,Arts WF,Beck M,Covanis A,Donati MA,Parini R,Zammarchi E,d'Azzo A

更新日期：2000-11-01 00:00:00

abstract：:Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. The gene mutated in AOA2, SETX, encodes senataxin, a putative DNA/RNA helicase which shares high homology to the yeast Sen1p protein and has been shown to play a role ...

journal_title：Human molecular genetics

authors： Suraweera A,Lim Y,Woods R,Birrell GW,Nasim T,Becherel OJ,Lavin MF

更新日期：2009-09-15 00:00:00

abstract：:Meningiomas are common nervous system tumors, whose molecular pathogenesis is poorly understood. To date, the most frequent genetic alteration detected in these tumors is loss of heterozygosity (LOH) on chromosome 22q. This finding led to the identification of the neurofibromatosis 2 (NF2) tumor suppressor gene on 22q...

journal_title：Human molecular genetics

authors： Gutmann DH,Donahoe J,Perry A,Lemke N,Gorse K,Kittiniyom K,Rempel SA,Gutierrez JA,Newsham IF

更新日期：2000-06-12 00:00:00

abstract：:The Pearson marrow-pancreas syndrome (MIM 557000) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy. We have previously shown that this disease results from a defect of oxidative phosphorylation associated with deletions of the mitochondrial DNA. We present here a series of 21...

journal_title：Human molecular genetics

authors： Rötig A,Bourgeron T,Chretien D,Rustin P,Munnich A

更新日期：1995-08-01 00:00:00

abstract：:Patients with ataxia-telangiectasia (A-T) lack a functional ATM kinase protein and exhibit defective repair of DNA double-stranded breaks and response to oxidative stress. We show that CRISPR/Cas9-assisted gene correction combined with piggyBac (PB) transposon-mediated excision of the selection cassette enables seamle...

journal_title：Human molecular genetics

authors： Ovchinnikov DA,Withey SL,Leeson HC,Lei UW,Sundarrajan A,Junday K,Pewarchuk M,Yeo AJ,Kijas AW,Lavin MF,Wolvetang EJ

更新日期：2020-04-15 00:00:00

abstract：:Mutations in the WNK1 gene cause Gordon's syndrome, a rare Mendelian form of hypertension. We assessed whether common WNK1 variants might also contribute to essential hypertension (EH), a multifactorial disorder affecting > 25% of the adult population worldwide. A panel of 19 single nucleotide polymorphisms (SNPs) spa...

journal_title：Human molecular genetics

authors： Newhouse SJ,Wallace C,Dobson R,Mein C,Pembroke J,Farrall M,Clayton D,Brown M,Samani N,Dominiczak A,Connell JM,Webster J,Lathrop GM,Caulfield M,Munroe PB

更新日期：2005-07-01 00:00:00

abstract：:Leukocyte telomere length (LTL) might be causal in cardiovascular disease and major cancers. To elucidate the roles of genetics and geography in LTL variability across humans, we compared LTL measured in 1295 sub-Saharan Africans (SSAs) with 559 African-Americans (AAms) and 2464 European-Americans (EAms). LTL differed...

journal_title：Human molecular genetics

authors： Hunt SC,Hansen MEB,Verhulst S,McQuillan MA,Beggs W,Lai TP,Mokone GG,Mpoloka SW,Meskel DW,Belay G,Nyambo TB,Abnet CC,Yeager M,Chanock SJ,Province MA,Williams SM,Aviv A,Tishkoff SA

更新日期：2020-11-04 00:00:00

abstract：:Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are two human autosomal dominant skeletal dysplasias characterized by variable short stature, joint laxity and early-onset degenerative joint disease. Both disorders can result from mut-ations in the gene for cartilage oligomeric matrix protein (COMP...

journal_title：Human molecular genetics

authors： Délot E,King LM,Briggs MD,Wilcox WR,Cohn DH

更新日期：1999-01-01 00:00:00

abstract：:Autosomal dominant familial spastic paraplegia (FSP) is a genetically heterogeneous neurodegenerative disorder displaying anticipation for which three loci have been mapped to the chromosomal positions 14q11.2-q24.3 (SPG3), 2p21-p24 (SPG4) and 15q11.1 (SPG6). The repeat expansion detection (RED) method has been used t...

journal_title：Human molecular genetics

authors： Benson KF,Horwitz M,Wolff J,Friend K,Thompson E,White S,Richards RI,Raskind WH,Bird TD

更新日期：1998-10-01 00:00:00

abstract：:Determining the full complement of protein-coding genes is a key goal of genome annotation. The most powerful approach for confirming protein-coding potential is the detection of cellular protein expression through peptide mass spectrometry (MS) experiments. Here, we mapped peptides detected in seven large-scale prote...

journal_title：Human molecular genetics

authors： Ezkurdia I,Juan D,Rodriguez JM,Frankish A,Diekhans M,Harrow J,Vazquez J,Valencia A,Tress ML

更新日期：2014-11-15 00:00:00

abstract：:Development of neural circuitry depends on the integration of signaling pathways to coordinate specification, proliferation and differentiation of cell types in the right number, in the right place, at the right time. Zinc finger protein 423 (Zfp423), a 30-zinc finger transcription factor, forms alternate complexes wi...

journal_title：Human molecular genetics

authors： Alcaraz WA,Chen E,Valdes P,Kim E,Lo YH,Vo J,Hamilton BA

更新日期：2011-10-01 00:00:00

abstract：:Mutations in the gene encoding the inner nuclear membrane proteins lamins A and C produce cardiac and skeletal muscle dysfunction referred to as Emery Dreifuss muscular dystrophy. Lamins A and C participate in the LINC complex that, along with the nesprin and SUN proteins, LInk the Nucleoskeleton with the Cytoskeleton...

journal_title：Human molecular genetics

authors： Puckelwartz MJ,Kessler E,Zhang Y,Hodzic D,Randles KN,Morris G,Earley JU,Hadhazy M,Holaska JM,Mewborn SK,Pytel P,McNally EM

更新日期：2009-02-15 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a lethal muscle wasting disorder caused by mutations in the DMD gene that leads to the absence or severe reduction of dystrophin protein in muscle. The mdx mouse, also dystrophin deficient, is the model most widely used to study the pathology and test potential therapies, but the p...

journal_title：Human molecular genetics

authors： Coles CA,Gordon L,Hunt LC,Webster T,Piers AT,Kintakas C,Woodman K,Touslon SL,Smythe GM,White JD,Lamandé SR

更新日期：2020-02-01 00:00:00

abstract：:Niemann-Pick type C (NPC) disease is a fatal recessively inherited lysosomal cholesterol-sphingolipidosis. Mutations in the NPC1 gene cause approximately 95% of the cases, the rest being caused by NPC2 mutations. Here the molecular basis of a severe infantile form of the disease was dissected. The level of NPC1 protei...

journal_title：Human molecular genetics

authors： Blom TS,Linder MD,Snow K,Pihko H,Hess MW,Jokitalo E,Veckman V,Syvänen AC,Ikonen E

更新日期：2003-02-01 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：:Protein translation is an essential cellular process initiated by the association of a methionyl-tRNA with the translation initiation factor eIF2. The Met-tRNA/eIF2 complex then associates with the small ribosomal subunit, other translation factors and mRNA, which together comprise the translational initiation complex...

journal_title：Human molecular genetics

authors： Kernohan KD,Tétreault M,Liwak-Muir U,Geraghty MT,Qin W,Venkateswaran S,Davila J,Care4Rare Canada Consortium.,Holcik M,Majewski J,Richer J,Boycott KM

更新日期：2015-11-15 00:00:00

abstract：:Evidence of the effects of genetic risk score (GRS) on secondary prevention is scarce and mixed. We investigated whether coronary artery disease (CAD) susceptible loci can be used to predict the risk of major adverse cardiovascular events (MACEs) in a cohort with acute coronary syndromes (ACSs). A total of 1667 patien...

journal_title：Human molecular genetics

authors： Jiang J,Zheng Q,Han Y,Qiao S,Chen J,Yuan Z,Yu B,Ge L,Jia J,Gong Y,Wang Z,Chen D,Zhang Y,Huo Y

更新日期：2020-04-15 00:00:00