A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population.

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：: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 mammals, sperm-oocyte fusion initiates Ca(2+) oscillations leading to a series of events called oocyte activation, which is the first stage of embryo development. Ca(2+) signaling is elicited by the delivery of an oocyte-activating factor by the sperm. A sperm-specific phospholipase C (PLCZ1) has emerged as the lik...

journal_title：Human molecular genetics

authors： Escoffier J,Lee HC,Yassine S,Zouari R,Martinez G,Karaouzène T,Coutton C,Kherraf ZE,Halouani L,Triki C,Nef S,Thierry-Mieg N,Savinov SN,Fissore R,Ray PF,Arnoult C

更新日期：2016-03-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified several common loci contributing to non-obstructive azoospermia (NOA). However, a substantial fraction of NOA heritability remains undefined, especially those low-frequency [defined here as having a minor allele frequency (MAF) between 0.5 and 5%] and rare (MAF be...

journal_title：Human molecular genetics

authors： Ni B,Lin Y,Sun L,Zhu M,Li Z,Wang H,Yu J,Guo X,Zuo X,Dong J,Xia Y,Wen Y,Wu H,Li H,Zhu Y,Ping P,Chen X,Dai J,Jiang Y,Xu P,Du Q,Yao B,Weng N,Lu H,Wang Z,Zhu X,Yang X,Xiong C,Ma H,Jin G,Xu J,Wang

更新日期：2015-10-01 00:00:00

abstract：:Several genes with an essential role in the regulation of eating behavior and body weight are considered candidates involved in the etiology of eating disorders (ED), but no relevant susceptibility genes with a major effect on anorexia nervosa (AN) or bulimia nervosa (BN) have been identified. Brain-derived neurotroph...

journal_title：Human molecular genetics

authors： Ribasés M,Gratacòs M,Fernández-Aranda F,Bellodi L,Boni C,Anderluh M,Cavallini MC,Cellini E,Di Bella D,Erzegovesi S,Foulon C,Gabrovsek M,Gorwood P,Hebebrand J,Hinney A,Holliday J,Hu X,Karwautz A,Kipman A,Komel R,Na

更新日期：2004-06-15 00:00:00

abstract：:Cone photoreceptors (cones) are essential for high-resolution daylight vision and colour perception. Loss of cones in hereditary retinal diseases has a dramatic impact on human vision. The mechanisms underlying cone death are poorly understood, and consequently, there are no treatments available. Previous studies sugg...

journal_title：Human molecular genetics

authors： Kulkarni M,Trifunović D,Schubert T,Euler T,Paquet-Durand F

更新日期：2016-09-01 00:00:00

abstract：:Hypomorphic mutations of the MRE11 gene are the hallmark of the radiosensitive ataxia-telangiectasia-like disorder (ATLD). Here, we describe a new family with two affected siblings, ATLD5 and ATLD6, now aged 37 and 36, respectively. They presented with late onset cerebellar degeneration slowly progressing until pubert...

journal_title：Human molecular genetics

authors： Delia D,Piane M,Buscemi G,Savio C,Palmeri S,Lulli P,Carlessi L,Fontanella E,Chessa L

更新日期：2004-09-15 00:00:00

abstract：:Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome that maps to human chromosome 11p15.5, a region that harbours a number of imprinted genes. We studied the methylation status of H19 and KCNQ1OT1 (LIT1/KvDMR1) in a large series of BWS patients. Different patient groups were identified: group I pa...

journal_title：Human molecular genetics

authors： Bliek J,Maas SM,Ruijter JM,Hennekam RC,Alders M,Westerveld A,Mannens MM

更新日期：2001-03-01 00:00:00

abstract：:Interpretation of genetic association results is difficult because signals often lack biological context. To generate hypotheses of the functional genetic etiology of complex cardiometabolic traits, we estimated the genetically determined component of gene expression from common variants using PrediXcan (1) and determ...

journal_title：Human molecular genetics

authors： Petty LE,Highland HM,Gamazon ER,Hu H,Karhade M,Chen HH,de Vries PS,Grove ML,Aguilar D,Bell GI,Huff CD,Hanis CL,Doddapaneni H,Munzy DM,Gibbs RA,Ma J,Parra EJ,Cruz M,Valladares-Salgado A,Arking DE,Barbeira A,Im HK

更新日期：2019-04-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are neurodegenerative diseases with clinical and pathological overlap. Landmark discoveries of mutations in the transactive response DNA-binding protein (TDP-43) and fused in sarcoma/translocated in liposarcoma (FUS/TLS) as causative of A...

journal_title：Human molecular genetics

authors： Lagier-Tourenne C,Polymenidou M,Cleveland DW

更新日期：2010-04-15 00:00:00

abstract：:Ketosis-prone diabetes (KPD) is a rare form of type 2 diabetes, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by fulminant and phasic insulin dependence, but lacking markers of autoimmunity observed in type 1 diabetes. PAX4 is a transcription factor essential f...

journal_title：Human molecular genetics

authors： Mauvais-Jarvis F,Smith SB,Le May C,Leal SM,Gautier JF,Molokhia M,Riveline JP,Rajan AS,Kevorkian JP,Zhang S,Vexiau P,German MS,Vaisse C

更新日期：2004-12-15 00:00:00

abstract：:The vast majority of Friedreich ataxia patients are homozygous for large GAA triplet repeat expansions in intron 1 of the X25 gene. Instability of the expanded GAA repeat was examined in 23 chromosomes bearing 97-1250 triplets in lymphoblastoid cell lines passaged 20-39 times. Southern analyses revealed 18 events of s...

journal_title：Human molecular genetics

authors： Bidichandani SI,Purandare SM,Taylor EE,Gumin G,Machkhas H,Harati Y,Gibbs RA,Ashizawa T,Patel PI

更新日期：1999-12-01 00:00:00

abstract：:Expansion of a polyglutamine tract in ataxin-3 (AT3) results in spinocerebellar ataxia type 3/Machado-Joseph disease, one of the nine polyglutamine neurodegenerative diseases. Understanding the normal functions of AT3 as well as its function in the context of expansion of the polyglutamine tract is critical for unders...

journal_title：Human molecular genetics

authors： Zhong X,Pittman RN

更新日期：2006-08-15 00:00:00

abstract：:Lysosomal storage diseases are due to inherited deficiencies in various enzymes involved in basic metabolic processes. As with other genetic diseases, accurate structure data for these enzymatic proteins should help in better understanding the molecular effects of mutations identified in patients with the correspondin...

journal_title：Human molecular genetics

authors： Durand P,Fabrega S,Henrissat B,Mornon JP,Lehn P

更新日期：2000-04-12 00:00:00

abstract：:To identify genes that affect body mass index (BMI) in American Indians who are predominately of Pima Indian heritage, we previously completed a genome-wide association study in 1120 American Indians. That study also included follow-up genotyping for 9 SNPs in 2133 additional subjects. A comprehensive follow-up study ...

journal_title：Human molecular genetics

authors： Bian L,Traurig M,Hanson RL,Marinelarena A,Kobes S,Muller YL,Malhotra A,Huang K,Perez J,Gale A,Knowler WC,Bogardus C,Baier LJ

更新日期：2013-11-01 00:00:00

abstract：:The CFTR gene, in which more than 300 mutations have been described, displays a spectrum of mutations which varies according to ethnic and geographic origin of patients. In this paper we report an exhaustive study of the 27 exons and exon/intron boundaries of a sample of 35 CF patients from Bulgaria which is situated ...

journal_title：Human molecular genetics

authors： Savov A,Mercier B,Kalaydjieva L,Férec C

更新日期：1994-01-01 00:00:00

abstract：:The integrity and dynamic properties of the microtubule cytoskeleton are indispensable for the development of the mammalian brain. Consequently, mutations in the genes that encode the structural component (the α/β-tubulin heterodimer) can give rise to severe, sporadic neurodevelopmental disorders. These are commonly r...

journal_title：Human molecular genetics

authors： Breuss MW,Nguyen T,Srivatsan A,Leca I,Tian G,Fritz T,Hansen AH,Musaev D,McEvoy-Venneri J,James KN,Rosti RO,Scott E,Tan U,Kolodner RD,Cowan NJ,Keays DA,Gleeson JG

更新日期：2017-01-15 00:00:00

abstract：:Niemann-Pick C1 (NPC1) disease is a rare, neurodegenerative lysosomal cholesterol storage disorder, typified by progressive cognitive and motor function impairment. Affected individuals usually succumb to the disease in adolescence. 2-Hydroxypropyl-β-cyclodextrin (HP-β-CD) has emerged as a promising intervention that ...

journal_title：Human molecular genetics

authors： Tortelli B,Fujiwara H,Bagel JH,Zhang J,Sidhu R,Jiang X,Yanjanin NM,Shankar RK,Carillo-Carasco N,Heiss J,Ottinger E,Porter FD,Schaffer JE,Vite CH,Ory DS

更新日期：2014-11-15 00:00:00

abstract：:Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures) to non-syndromic hearing loss...

journal_title：Human molecular genetics

authors： Finelli MJ,Aprile D,Castroflorio E,Jeans A,Moschetta M,Chessum L,Degiacomi MT,Grasegger J,Lupien-Meilleur A,Bassett A,Rossignol E,Campeau PM,Bowl MR,Benfenati F,Fassio A,Oliver PL

更新日期：2019-02-15 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：:BCS1L encodes a homolog of the Saccharomyces cerevisiae bcs1 protein, which has a known role in the assembly of Complex III of the mitochondrial respiratory chain. Phenotypes reported in association with pathogenic BCS1L variants include growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis an...

journal_title：Human molecular genetics

authors： Oláhová M,Ceccatelli Berti C,Collier JJ,Alston CL,Jameson E,Jones SA,Edwards N,He L,Chinnery PF,Horvath R,Goffrini P,Taylor RW,Sayer JA

更新日期：2019-11-15 00:00:00

abstract：:Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder phenotypically characterized by many features of premature aging. Most cases of HGPS are due to a heterozygous silent mutation (c.1824C>T; p.Gly608Gly) that enhances the use of an internal 5' splice site (5'SS) in exon 11 of the LMNA pre-mRNA and l...

journal_title：Human molecular genetics

authors： Lopez-Mejia IC,Vautrot V,De Toledo M,Behm-Ansmant I,Bourgeois CF,Navarro CL,Osorio FG,Freije JM,Stévenin J,De Sandre-Giovannoli A,Lopez-Otin C,Lévy N,Branlant C,Tazi J

更新日期：2011-12-01 00:00:00

abstract：:Glycosylation with O-linked β-N-acetylglucosamine (O-GlcNAc) is one of the protein glycosylations affecting various intracellular events. However, the role of O-GlcNAcylation in neurodegenerative diseases such as Alzheimer's disease (AD) is poorly understood. Mitochondrial adenosine 5'-triphosphate (ATP) synthase is a...

journal_title：Human molecular genetics

authors： Cha MY,Cho HJ,Kim C,Jung YO,Kang MJ,Murray ME,Hong HS,Choi YJ,Choi H,Kim DK,Choi H,Kim J,Dickson DW,Song HK,Cho JW,Yi EC,Kim J,Jin SM,Mook-Jung I

更新日期：2015-11-15 00:00:00

abstract：:Mutations of the thyroid hormone receptor α gene (THRA) cause hypothyroidism in patients with growth and developmental retardation, and skeletal dysplasia. Genetic evidence indicates that the dominant negative activity of TRα1 mutants underlies pathological manifestations. Using a mouse model of hypothyroidism caused ...

journal_title：Human molecular genetics

authors： Kim DW,Park JW,Willingham MC,Cheng SY

更新日期：2014-05-15 00:00:00

abstract：:Huntington's disease shares a common molecular basis with eight other neurodegenerative diseases, expansion of an existing polyglutamine tract. In each case, this repeat tract occurs within otherwise unrelated proteins. These proteins show widespread and overlapping patterns of expression in the brain and yet the dise...

journal_title：Human molecular genetics

authors： Henshall TL,Tucker B,Lumsden AL,Nornes S,Lardelli MT,Richards RI

更新日期：2009-12-15 00:00:00

abstract：:Recent studies in mice have clearly demonstrated that eliminating Apo E alters the rate, character and distribution of A beta deposits. In the present study, we asked whether elevating the levels of Apo E can, in a dominant fashion, influence amyloid deposition. We expressed human (Hu) Apo E4 via the mouse prion prote...

journal_title：Human molecular genetics

authors： Lesuisse C,Xu G,Anderson J,Wong M,Jankowsky J,Holtz G,Gonzalez V,Wong PC,Price DL,Tang F,Wagner S,Borchelt DR

更新日期：2001-10-15 00:00:00

abstract：:Gene function in cancer can be disrupted either through genetic alterations, which directly mutate or delete genes, or epigenetic alterations, which alter the heritable state of gene expression. The latter events are mediated by formation of transcriptionally repressive chromatin states around gene transcription start...

journal_title：Human molecular genetics

authors： Baylin SB,Esteller M,Rountree MR,Bachman KE,Schuebel K,Herman JG

更新日期：2001-04-01 00:00:00

abstract：:Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using ...

journal_title：Human molecular genetics

authors： Steinberg S,de Jong S,Irish Schizophrenia Genomics Consortium.,Andreassen OA,Werge T,Børglum AD,Mors O,Mortensen PB,Gustafsson O,Costas J,Pietiläinen OP,Demontis D,Papiol S,Huttenlocher J,Mattheisen M,Breuer R,Vassos E,

更新日期：2011-10-15 00:00:00

abstract：:Genetic and environmental influences are thought to interact in their contribution to the etiology of major neuropsychiatric disorders. One of the best replicated findings obtained in genome-wide association studies are genetic variants in the CACNA1C gene. Here, we used our constitutive heterozygous Cacna1c rat model...

journal_title：Human molecular genetics

authors： Braun MD,Kisko TM,Witt SH,Rietschel M,Schwarting RKW,Wöhr M

更新日期：2019-12-15 00:00:00

abstract：:Pathogenic leucine-rich repeat kinase 2 (LRRK2) mutations are recognized as the most common cause of familial Parkinson's disease in certain populations. Recently, LRRK2 mutations were shown to be associated with a higher risk of hormone-related cancers. However, how LRRK2 itself contributes to cancer risk remains unk...

journal_title：Human molecular genetics

authors： Chen Z,Cao Z,Zhang W,Gu M,Zhou ZD,Li B,Li J,Tan EK,Zeng L

更新日期：2017-11-15 00:00:00