SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta.

abstract：:Gene therapy holds great promise for curing Duchenne muscular dystrophy (DMD), the most common fatal inherited childhood muscle disease. Success of DMD gene therapy depends upon functional improvement in both skeletal and cardiac muscle. Numerous gene transfer studies have been performed to correct skeletal muscle pat...

journal_title：Human molecular genetics

authors： Yue Y,Skimming JW,Liu M,Strawn T,Duan D

更新日期：2004-08-01 00:00:00

abstract：:Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients. We hypothesized that unexplained IS cases represent a large collection of rare single-gene disorders. We investigated 44 children with unexplained IS using comparative genomic hybridisation arrays (aCGH) (n = 44) ...

journal_title：Human molecular genetics

authors： Michaud JL,Lachance M,Hamdan FF,Carmant L,Lortie A,Diadori P,Major P,Meijer IA,Lemyre E,Cossette P,Mefford HC,Rouleau GA,Rossignol E

更新日期：2014-09-15 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：:Thyroid-stimulating hormone (TSH) is a sensitive indicator of thyroid function. High and low TSH levels reflect hypothyroidism and hyperthyroidism, respectively. Even within the normal range, small differences in TSH levels, on the order of 0.5-1.0 mU/l, are associated with significant differences in blood pressure, B...

journal_title：Human molecular genetics

authors： Zhan M,Chen G,Pan CM,Gu ZH,Zhao SX,Liu W,Wang HN,Ye XP,Xie HJ,Yu SS,Liang J,Gao GQ,Yuan GY,Zhang XM,Zuo CL,Su B,Huang W,Ning G,Chen SJ,Chen JL,Song HD,China Consortium for Genetics of Autoimmune Thyroid Disease.

更新日期：2014-10-15 00:00:00

abstract：:Glaucoma is the leading cause of irreversible blindness worldwide. Although most glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also important causes of visual disability. Primary congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years of li...

journal_title：Human molecular genetics

authors： Lewis CJ,Hedberg-Buenz A,DeLuca AP,Stone EM,Alward WLM,Fingert JH

更新日期：2017-08-01 00:00:00

abstract：:Uncontrolled cell cycle entry, resulting from deregulated CDK-RB1-E2F pathway activity, is a crucial determinant of neuroblastoma cell malignancy. Here we identify neuroblastoma-suppressive functions of the p19-INK4d CDK inhibitor and uncover mechanisms of its repression in high-risk neuroblastomas. Reduced p19-INK4d ...

journal_title：Human molecular genetics

authors： Dreidax D,Bannert S,Henrich KO,Schröder C,Bender S,Oakes CC,Lindner S,Schulte JH,Duffy D,Schwarzl T,Saadati M,Ehemann V,Benner A,Pfister S,Fischer M,Westermann F

更新日期：2014-12-20 00:00:00

abstract：:A 1.5 Mb duplication within 17p11.2 is the major mutation causing both autosomal dominant and sporadic Charcot-Marie-Tooth disease type 1A (CMT1A). An independent origin for the mutation in each family has been postulated. The proposed genetic mechanism causing the CMT1A duplication is unequal nonsister chromatid exch...

journal_title：Human molecular genetics

authors： Palau F,Löfgren A,De Jonghe P,Bort S,Nelis E,Sevilla T,Martin JJ,Vilchez J,Prieto F,Van Broeckhoven C

更新日期：1993-12-01 00:00:00

abstract：:GM2 gangliosidoses are a group of lysosomal storage disorders which include Sandhoff disease and Tay-Sachs disease. Dysregulation of glutamate receptors has been recently postulated in the pathology of Sandhoff disease. Glutamate receptor association with neuronal pentraxins 1 and 2, and the neuronal pentraxin recepto...

journal_title：Human molecular genetics

authors： Hooper AWM,Alamilla JF,Venier RE,Gillespie DC,Igdoura SA

更新日期：2017-02-15 00:00:00

abstract：:Myotonic dystrophy (DM) is the most common form of inherited neuromuscular disease in adults and is characterized by progressive muscle wasting and myotonia. The mutation responsible for DM has been identified as the amplification of a polymorphic (CTG)n repeat in the 3' untranslated region of a gene encoding a serine...

journal_title：Human molecular genetics

authors： Whiting EJ,Waring JD,Tamai K,Somerville MJ,Hincke M,Staines WA,Ikeda JE,Korneluk RG

更新日期：1995-06-01 00:00:00

abstract：:Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G-->A nucleotide change. The mutation results in substitution of a glutamic acid for a g...

journal_title：Human molecular genetics

authors： Renieri A,Seri M,Myers JC,Pihlajaniemi T,Massella L,Rizzoni G,De Marchi M

更新日期：1992-05-01 00:00:00

abstract：:Peak bone mass achieved in adolescence is a determinant of bone mass in later life. In order to identify genetic variants affecting bone mineral density (BMD), we performed a genome-wide association study of BMD and related traits in 1518 children from the Avon Longitudinal Study of Parents and Children (ALSPAC). We c...

journal_title：Human molecular genetics

authors： Timpson NJ,Tobias JH,Richards JB,Soranzo N,Duncan EL,Sims AM,Whittaker P,Kumanduri V,Zhai G,Glaser B,Eisman J,Jones G,Nicholson G,Prince R,Seeman E,Spector TD,Brown MA,Peltonen L,Smith GD,Deloukas P,Evans DM

更新日期：2009-04-15 00:00:00

abstract：:Oculodentodigital syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an i...

journal_title：Human molecular genetics

authors： Gladwin A,Donnai D,Metcalfe K,Schrander-Stumpel C,Brueton L,Verloes A,Aylsworth A,Toriello H,Winter R,Dixon M

更新日期：1997-01-01 00:00:00

abstract：:We have previously developed a functional assay in yeast for the copper transporter, ATP7B, defective in Wilson disease (WND). Analysis of WND variant ATP7B proteins revealed that several were able to completely, or nearly completely, complement a mutant yeast strain in which the ATP7B ortholog CCC2 was disrupted, ind...

journal_title：Human molecular genetics

authors： Forbes JR,Cox DW

更新日期：2000-08-12 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：:Proper splicing is often crucial for gene functioning and its disruption may be strongly deleterious. Nevertheless, even the essential for splicing canonical dinucleotides of the splice sites are often polymorphic. Here, we use data from The 1000 Genomes Project to study single-nucleotide polymorphisms (SNPs) in the c...

journal_title：Human molecular genetics

authors： Kurmangaliyev YZ,Sutormin RA,Naumenko SA,Bazykin GA,Gelfand MS

更新日期：2013-09-01 00:00:00

abstract：:CREB-binding protein (CBP, CREBBP, KAT3A) and its closely related paralogue p300 (EP300, KAT3B), together termed p300/CBP, are histone/lysine acetyl-transferases that control gene expression by modifying chromatin-associated proteins. Here, we report roles for both of these chromatin-modifying enzymes in mouse sex det...

journal_title：Human molecular genetics

authors： Carré GA,Siggers P,Xipolita M,Brindle P,Lutz B,Wells S,Greenfield A

更新日期：2018-01-01 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：: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：:For the past 40 years, research into Parkinson's disease (PD) has been predominantly the province of epidemiologists interested in pursuing the connection between the disease and environmental factors such as viral infection or neurotoxins. Hereditary influences were actually discounted because of a high monozygotic t...

journal_title：Human molecular genetics

authors： Nussbaum RL,Polymeropoulos MH

更新日期：1997-01-01 00:00:00

abstract：:The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition. A-T carriers were reported to be moderately cancer-prone. A wide variety of A-T mutations, most of which are unique to single families, wer...

journal_title：Human molecular genetics

authors： Gilad S,Bar-Shira A,Harnik R,Shkedy D,Ziv Y,Khosravi R,Brown K,Vanagaite L,Xu G,Frydman M,Lavin MF,Hill D,Tagle DA,Shiloh Y

更新日期：1996-12-01 00:00:00

abstract：:X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder characterized by axonopathy and demyelination in the central nervous system and adrenal insufficiency. Main X-ALD phenotypes are: (i) an adult adrenomyeloneuropathy (AMN) with axonopathy in spinal cords, (ii) cerebral AMN with brain demyelination (cAMN) an...

journal_title：Human molecular genetics

authors： Schlüter A,Espinosa L,Fourcade S,Galino J,López E,Ilieva E,Morató L,Asheuer M,Cook T,McLaren A,Reid J,Kelly F,Bates S,Aubourg P,Galea E,Pujol A

更新日期：2012-03-01 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：:Determination of variant pathogenicity represents a major challenge in the era of high-throughput sequencing. Erroneous categorization may result if variants affect genes that are in fact dispensable. We demonstrate that this also applies to rare, apparently unambiguous truncating mutations of an established disease g...

journal_title：Human molecular genetics

authors： Elsayed SM,Phillips JB,Heller R,Thoenes M,Elsobky E,Nürnberg G,Nürnberg P,Seland S,Ebermann I,Altmüller J,Thiele H,Toliat M,Körber F,Hu XJ,Wu YD,Zaki MS,Abdel-Salam G,Gleeson J,Boltshauser E,Westerfield M,Bolz HJ

更新日期：2015-05-01 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：:To further identify novel susceptibility loci of nasopharyngeal carcinoma (NPC), we here extended our previous genome-wide association study (GWAS) by boosting statistical power with larger sample size and validating more SNPs in the ranking list based on the GWAS P-values. The discovery stage consisting of 463,250 SN...

journal_title：Human molecular genetics

authors： Cui Q,Feng QS,Mo HY,Sun J,Xia YF,Zhang H,Foo JN,Guo YM,Chen LZ,Li M,Liu WS,Xu M,Zhou G,He F,Yu X,Jia WH,Liu J,Zeng YX,Bei JX

更新日期：2016-08-15 00:00:00

abstract：:Recent genome-wide association studies (GWAS) have identified a number of novel genetic associations with complex human diseases. In spite of these successes, results from GWAS generally explain only a small proportion of disease heritability, an observation termed the 'missing heritability problem'. Several sources f...

journal_title：Human molecular genetics

authors： Cusanovich DA,Billstrand C,Zhou X,Chavarria C,De Leon S,Michelini K,Pai AA,Ober C,Gilad Y

更新日期：2012-05-01 00:00:00

abstract：:Mutations in PARK8, encoding leucine-rich repeat kinase 2 (LRRK2), are a frequent cause of Parkinson's disease (PD). Nonetheless, the physiological role of LRRK2 remains unclear. Here, we demonstrate that LRRK2 participates in canonical Wnt signaling as a scaffold. LRRK2 interacts with key Wnt signaling proteins of th...

journal_title：Human molecular genetics

authors： Berwick DC,Harvey K

更新日期：2012-11-15 00:00:00

abstract：:Huntington disease (HD) is an autosomal dominant neurodegenerative disease caused by an expanded CAG trinucleotide repeat in the first exon of the HD gene, which results in a toxic polyglutamine stretch within huntingtin, the protein it encodes. Understanding the normal function of this essential protein is vital to u...

journal_title：Human molecular genetics

authors： Strehlow AN,Li JZ,Myers RM

更新日期：2007-02-15 00:00:00

abstract：:Human cytidine deaminase APOBEC3G and the virion infectivity factor (vif) of the human immunodeficiency virus (HIV) are a pair of antagonistic molecules. In the absence of vif, APOBEC3G induces a high rate of dC to dU mutations in the nascent reverse transcripts of HIV that leads to the degradation of the HIV genome. ...

journal_title：Human molecular genetics

authors： Zhang J,Webb DM

更新日期：2004-08-15 00:00:00

abstract：:To assess the relationship between the genotype and phenotype of adult CF patients we have selected from a group of 512 CF patients attending centres in France, all these of greater than 35 years. We have analysed the entire coding sequence of their CFTR genes. The complete genotype was determined in 7 of the 8 patien...

journal_title：Human molecular genetics

authors： Férec C,Verlingue C,Guillermit H,Quéré I,Raguénès O,Feigelson J,Audrézet MP,Moullier P,Mercier B

更新日期：1993-10-01 00:00:00