Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.

abstract：:Prolonged depolarization of skeletal muscle cells induces entry of extracellular calcium into muscle cells, an event referred to as excitation-coupled calcium entry. Skeletal muscle excitation-coupled calcium entry relies on the interaction between the 1,4-dihydropyridine receptor on the sarcolemma and the ryanodine r...

journal_title：Human molecular genetics

authors： Treves S,Vukcevic M,Jeannet PY,Levano S,Girard T,Urwyler A,Fischer D,Voit T,Jungbluth H,Lillis S,Muntoni F,Quinlivan R,Sarkozy A,Bushby K,Zorzato F

更新日期：2011-02-01 00:00:00

abstract：:We have cloned, sequenced and annotated segments of DNA spanning the mouse, chicken and pufferfish alpha globin gene clusters and compared them with the corresponding region in man. This has defined a small segment ( approximately 135-155 kb) of synteny and conserved gene order, which may contain all of the elements r...

journal_title：Human molecular genetics

authors： Flint J,Tufarelli C,Peden J,Clark K,Daniels RJ,Hardison R,Miller W,Philipsen S,Tan-Un KC,McMorrow T,Frampton J,Alter BP,Frischauf AM,Higgs DR

更新日期：2001-02-15 00:00:00

abstract：:A genetic contribution to the development of age-related macular degeneration (AMD) is well established. Several genome-wide linkage studies have identified a number of putative susceptibility loci for AMD but only a few of these regions have been replicated in independent studies. Here, we perform a meta-analysis of ...

journal_title：Human molecular genetics

authors： Fisher SA,Abecasis GR,Yashar BM,Zareparsi S,Swaroop A,Iyengar SK,Klein BE,Klein R,Lee KE,Majewski J,Schultz DW,Klein ML,Seddon JM,Santangelo SL,Weeks DE,Conley YP,Mah TS,Schmidt S,Haines JL,Pericak-Vance MA,Gorin

更新日期：2005-08-01 00:00:00

abstract：:The short stature homeobox gene SHOX encodes a transcription factor which is important for normal limb development. In humans, SHOX deficiency has been associated with various short stature syndromes including Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia and Turner syndrome as well as non-syndromic i...

journal_title：Human molecular genetics

authors： Decker E,Durand C,Bender S,Rödelsperger C,Glaser A,Hecht J,Schneider KU,Rappold G

更新日期：2011-04-15 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：:We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia. PME is a rare, often fatal syndrome, initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. Linkage analys...

journal_title：Human molecular genetics

authors： Damiano JA,Afawi Z,Bahlo M,Mauermann M,Misk A,Arsov T,Oliver KL,Dahl HH,Shearer AE,Smith RJ,Hall NE,Mahmood K,Leventer RJ,Scheffer IE,Muona M,Lehesjoki AE,Korczyn AD,Herrmann H,Berkovic SF,Hildebrand MS

更新日期：2015-08-15 00:00:00

abstract：:The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells (hNCC) develop toward the end of the first month of pregnancy. It is assumed that most differentiate after migrating thr...

journal_title：Human molecular genetics

authors： Thomas S,Thomas M,Wincker P,Babarit C,Xu P,Speer MC,Munnich A,Lyonnet S,Vekemans M,Etchevers HC

更新日期：2008-11-01 00:00:00

abstract：:Aberrant tau protein accumulation drives neurofibrillary tangle (NFT) formation in several neurodegenerative diseases. Currently, efforts to elucidate pathogenic mechanisms and assess the efficacy of therapeutic targets are limited by constraints of existing models of tauopathy. In order to generate a more versatile m...

journal_title：Human molecular genetics

authors： Cook C,Kang SS,Carlomagno Y,Lin WL,Yue M,Kurti A,Shinohara M,Jansen-West K,Perkerson E,Castanedes-Casey M,Rousseau L,Phillips V,Bu G,Dickson DW,Petrucelli L,Fryer JD

更新日期：2015-11-01 00:00:00

abstract：:Genetics of Holoprosencephaly (HPE), a congenital malformation of the developing human forebrain, is due to multiple genetic defects. Most genes that have been implicated in HPE belong to the sonic hedgehog signaling pathway. Here we describe a new candidate gene isolated from array comparative genomic hybridization r...

journal_title：Human molecular genetics

authors： Dupé V,Rochard L,Mercier S,Le Pétillon Y,Gicquel I,Bendavid C,Bourrouillou G,Kini U,Thauvin-Robinet C,Bohan TP,Odent S,Dubourg C,David V

更新日期：2011-03-15 00:00:00

abstract：:Renal-coloboma syndrome, also known as papillorenal syndrome, is an autosomal dominant human disorder in which optic disc coloboma is associated with kidney abnormalities. Mutations in the paired domain transcription factor PAX2 have been found to be the underlying cause of this disease. Disease severity varies betwee...

journal_title：Human molecular genetics

authors： Cross SH,McKie L,West K,Coghill EL,Favor J,Bhattacharya S,Brown SD,Jackson IJ

更新日期：2011-01-15 00:00:00

abstract：:In human type 1 diabetes (T1D) and in its murine model, the major histocompatibility complex (MHC) class II molecules, human leukocyte antigens (HLA)-DQ and -DR and their murine orthologues, IA and IE, are the major genetic determinants. In this report, we have ranked HLA class II molecule-associated T1D risk in a two...

journal_title：Human molecular genetics

authors： Cucca F,Lampis R,Congia M,Angius E,Nutland S,Bain SC,Barnett AH,Todd JA

更新日期：2001-09-15 00:00:00

abstract：:There has been substantial progress in psychiatric genetics in recent years, through collaborative efforts to build large samples sizes for case/control analyses for a number of psychiatric disorders. The identification of replicated trait-associated genomic loci represents a large stride forward in a field where litt...

journal_title：Human molecular genetics

authors： Hodgson K,McGuffin P,Lewis CM

更新日期：2017-10-01 00:00:00

abstract：:The polymorphic K variant of the butyrylcholinesterase ( BCHE-K ) gene recently has been demonstrated to have an elevated frequency in Alzheimer's disease (AD) patients carrying the epsilon4 allele of the apolipoprotein (APO E) gene when compared with a control population. We therefore genotyped a large series of path...

journal_title：Human molecular genetics

authors： Singleton AB,Smith G,Gibson AM,Woodward R,Perry RH,Ince PG,Edwardson JA,Morris CM

更新日期：1998-05-01 00:00:00

abstract：:Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. We report here on consortin, a novel integral membrane protein that is predicted to be i...

journal_title：Human molecular genetics

authors： del Castillo FJ,Cohen-Salmon M,Charollais A,Caille D,Lampe PD,Chavrier P,Meda P,Petit C

更新日期：2010-01-15 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a genetic disorder characterized by loss of motor neurons in the spinal cord leading to muscle atrophy and death. Although motor neurons (MNs) are the most obviously affected cells in SMA, recent evidence suggest dysfunction in multiple cell types. Astrocytes are a crucial component of...

journal_title：Human molecular genetics

authors： Patitucci TN,Ebert AD

更新日期：2016-02-01 00:00:00

abstract：:Facioscapulohumeral muscular dystrophy (FSHD) is an incurable disorder linked to ectopic expression of DUX4. However, DUX4 is notoriously difficult to detect in FSHD muscle cells, while DUX4 target gene expression is an inconsistent biomarker for FSHD skeletal muscle biopsies, displaying efficacy only on pathologicall...

journal_title：Human molecular genetics

authors： Banerji CRS,Panamarova M,Zammit PS

更新日期：2020-08-11 00:00:00

abstract：:The infantile neuronal ceroid lipofuscinosis (INCL), a rare (one in 100 000 births) but one of the most lethal inherited neurodegenerative storage disorders of childhood, is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. PPT1 cleaves thioester linkages in s-acylated (palmitoylate...

journal_title：Human molecular genetics

authors： Kim SJ,Zhang Z,Lee YC,Mukherjee AB

更新日期：2006-05-15 00:00:00

abstract：:We have studied the functional effects of nonsense mitochondrial DNA (mtDNA) mutations in the COXI and ND5 genes in a colorectal tumor cell line. Surprisingly, these cells had an efficient oxidative phosphorylation (OXPHOS); however, when mitochondria from these cells were transferred to an osteosarcoma nuclear backgr...

journal_title：Human molecular genetics

authors： Srivastava S,Barrett JN,Moraes CT

更新日期：2007-04-15 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：:While several high-resolution recombination maps exist for European-descent populations, the recombination landscape of African populations remains relatively understudied. Given that there is high genetic divergence among groups in Africa, it is possible that recombination hotspots also diverge significantly. Both li...

journal_title：Human molecular genetics

authors： Eeden G,Uren C,Möller M,Henn BM

更新日期：2021-01-14 00:00:00

abstract：:In the normal diploid mouse embryo, active demethylation of the paternal genome but not of the maternal genome occurs within only a few hours and in a highly coordinated fashion as the zygote proceeds through the first G1 phase. This zygotic demethylation may be necessary to reprogram the sperm genome for somatic deve...

journal_title：Human molecular genetics

authors： Barton SC,Arney KL,Shi W,Niveleau A,Fundele R,Surani MA,Haaf T

更新日期：2001-12-15 00:00:00

abstract：:Loss of FMR2 causes Fragile X E (FRAXE) site-associated intellectual disability (ID). FMR2 regulates transcription, promotes alternative splicing with preference for G-quartet structure harbouring exons and is localized to the nuclear speckles. In primary skin fibroblasts from FRAXE patients (n = 8), we found a signif...

journal_title：Human molecular genetics

authors： Melko M,Nguyen LS,Shaw M,Jolly L,Bardoni B,Gecz J

更新日期：2013-08-01 00:00:00

abstract：:Retinitis pigmentosa (RP), a genetically heterogeneous group of retinopathies that occur in both non-syndromic and syndromic forms, is caused by mutations in ∼100 genes. Although recent advances in next-generation sequencing have aided in the discovery of novel RP genes, a number of the underlying contributing genes a...

journal_title：Human molecular genetics

authors： Xie YA,Lee W,Cai C,Gambin T,Nõupuu K,Sujirakul T,Ayuso C,Jhangiani S,Muzny D,Boerwinkle E,Gibbs R,Greenstein VC,Lupski JR,Tsang SH,Allikmets R

更新日期：2014-11-01 00:00:00

abstract：:Bone mineral density (BMD) is one of the major determinants of risk for osteoporotic fracture. Multiple studies reveal that peak bone mass is under strong genetic influence. One of the major susceptibility loci for peak spine BMD has been mapped to chromosome 1q21-q23 in the Caucasian population. We have previously re...

journal_title：Human molecular genetics

authors： Cheung CL,Chan BY,Chan V,Ikegawa S,Kou I,Ngai H,Smith D,Luk KD,Huang QY,Mori S,Sham PC,Kung AW

更新日期：2009-02-15 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：:Growing evidence suggests that amyotrophic lateral sclerosis (ALS) is a multisystem neurodegenerative disease that primarily affects motor neurons and, though less evidently, other neuronal systems. About 75% of sporadic and familial ALS patients show a subclinical degeneration of small-diameter fibers, as measured by...

journal_title：Human molecular genetics

authors： Sassone J,Taiana M,Lombardi R,Porretta-Serapiglia C,Freschi M,Bonanno S,Marcuzzo S,Caravello F,Bendotti C,Lauria G

更新日期：2016-04-15 00:00:00

abstract：:Gene transfer studies for the treatment of hemophilia began more than two decades ago. A large body of pre-clinical work evaluated a variety of vectors and target tissues, but by the start of the new millennium it became evident that adeno-associated viral (AAV)-mediated gene transfer to the liver held great promise a...

journal_title：Human molecular genetics

authors： High KA,Anguela XM

更新日期：2016-04-15 00:00:00

abstract：:Somatic and germline mutations in PTEN (phosphatase and tensin homolog deleted on chromosome 10) are found in sporadic cancers and Cowden syndrome patients, respectively. Recent identification of naturally occurring cancer and germline mutations within the ATP-binding motifs of PTEN (heretofore referred to as PTEN ATP...

journal_title：Human molecular genetics

authors： He X,Ni Y,Wang Y,Romigh T,Eng C

更新日期：2011-01-01 00:00:00

abstract：:The human genomic instability syndrome ataxia telangiectasia (A-T), caused by mutations in the gene encoding the DNA damage checkpoint kinase ATM, is characterized by multisystem defects including neurodegeneration, immunodeficiency and increased cancer predisposition. ATM is central to a pathway that responds to doub...

journal_title：Human molecular genetics

authors： Balmus G,Zhu M,Mukherjee S,Lyndaker AM,Hume KR,Lee J,Riccio ML,Reeves AP,Sutter NB,Noden DM,Peters RM,Weiss RS

更新日期：2012-08-01 00:00:00

abstract：:We performed a genome-wide scan for susceptibility loci in bipolar disorder in a study sample colleted from the isolated Finnish population, consisting of 41 families with at least two affected siblings. We identified one distinct locus on 16p12 providing significant evidence for linkage in two-point analysis (Z(max)=...

journal_title：Human molecular genetics

authors： Ekholm JM,Kieseppä T,Hiekkalinna T,Partonen T,Paunio T,Perola M,Ekelund J,Lönnqvist J,Pekkarinen-Ijäs P,Peltonen L

更新日期：2003-08-01 00:00:00