Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.

abstract：:The zinc metalloprotease ZMPSTE24 plays a critical role in nuclear lamin biology by cleaving the prenylated and carboxylmethylated 15-amino acid tail from the C-terminus of prelamin A to yield mature lamin A. A defect in this proteolytic event, caused by a mutation in the lamin A gene (LMNA) that eliminates the ZMPSTE...

journal_title：Human molecular genetics

authors： Barrowman J,Wiley PA,Hudon-Miller SE,Hrycyna CA,Michaelis S

更新日期：2012-09-15 00:00:00

abstract：:Juvenile neuronal ceroid lipofuscinosis (JNCL), Batten disease, is an autosomal recessive lysosomal storage disease associated with mutations in CLN3. CLN3 has no known homology to other proteins and a function has not yet been described. The predominant mutation in CLN3 is a 1.02 kb genomic deletion that accounts for...

journal_title：Human molecular genetics

authors： Haskell RE,Carr CJ,Pearce DA,Bennett MJ,Davidson BL

更新日期：2000-03-22 00:00:00

abstract：:Mutations in gigaxonin were identified in giant axonal neuropathy (GAN), an autosomal recessive disorder. To understand how disruption of gigaxonin's function leads to neurodegeneration, we ablated the gene expression in mice using traditional gene targeting approach. Progressive neurological phenotypes and pathologic...

journal_title：Human molecular genetics

authors： Ding J,Allen E,Wang W,Valle A,Wu C,Nardine T,Cui B,Yi J,Taylor A,Jeon NL,Chu S,So Y,Vogel H,Tolwani R,Mobley W,Yang Y

更新日期：2006-05-01 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：:Slow channel congenital myasthenic syndrome (SCCMS) is a disorder of the neuromuscular synapse caused by dominantly inherited missense mutations in genes that encode the muscle acetylcholine receptor (AChR) subunits. Here we investigate the potential of post-transcriptional gene silencing using RNA interference (RNAi)...

journal_title：Human molecular genetics

authors： Abdelgany A,Wood M,Beeson D

更新日期：2003-10-15 00:00:00

abstract：:Rheumatoid arthritis (RA) is the commonest chronic, systemic, inflammatory disorder affecting ∼1% of the world population. It has a strong genetic component and a growing number of associated genes have been discovered in genome-wide association studies (GWAS), which nevertheless only account for 23% of the total gene...

journal_title：Human molecular genetics

authors： Eleftherohorinou H,Hoggart CJ,Wright VJ,Levin M,Coin LJ

更新日期：2011-09-01 00:00:00

abstract：:'Pure' familial spastic paraplegias (FSP) are neurodegenerative disorders that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect in FSP is unknown. Genetic linkage analysis was applied to fiv...

journal_title：Human molecular genetics

authors： Hentati A,Pericak-Vance MA,Hung WY,Belal S,Laing N,Boustany RM,Hentati F,Ben Hamida M,Siddique T

更新日期：1994-08-01 00:00:00

abstract：:X-linked juvenile retinoschisis (XLRS) is an early-onset inherited condition that affects primarily males and is characterized by cystic lesions of the inner retina, decreased visual acuity and contrast sensitivity and a selective reduction of the electroretinogram (ERG) b-wave. Although XLRS is genetically heterogene...

journal_title：Human molecular genetics

authors： Liu Y,Kinoshita J,Ivanova E,Sun D,Li H,Liao T,Cao J,Bell BA,Wang JM,Tang Y,Brydges S,Peachey NS,Sagdullaev BT,Romano C

更新日期：2019-09-15 00:00:00

abstract：:Friedreich's ataxia is a neurodegenerative disorder caused by mutations in the frataxin gene that produces a predominantly mitochondrial protein whose primary function appears to be mitochondrial iron-sulfur cluster (ISC) biosynthesis. Previously we demonstrated that frataxin interacts with multiple components of the ...

journal_title：Human molecular genetics

authors： Shan Y,Cortopassi G

更新日期：2012-04-01 00:00:00

abstract：:Transposable elements (TEs) are major sources of new exons in higher eukaryotes. Almost half of the human genome is derived from TEs, and many types of TEs have the potential to exonize. In this work, we conducted a large-scale analysis of human exons derived from mammalian-wide interspersed repeats (MIRs), a class of...

journal_title：Human molecular genetics

authors： Lin L,Jiang P,Shen S,Sato S,Davidson BL,Xing Y

更新日期：2009-06-15 00:00:00

abstract：:Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle which manifests as a life-threatening hypermetabolic crisis triggered by commonly-used inhalation anaesthetics and depolarizing muscle relaxants. Defects in the ryanodine receptor (RYR1) protein have been proposed to under...

journal_title：Human molecular genetics

authors： Iles DE,Segers B,Sengers RC,Monsieurs K,Heytens L,Halsall PJ,Hopkins PM,Ellis FR,Hall-Curran JL,Stewart AD

更新日期：1993-07-01 00:00:00

abstract：:Glutamine (Q) expansion diseases are a family of degenerative disorders caused by the lengthening of CAG triplet repeats present in the coding sequences of seemingly unrelated genes whose mutant proteins drive pathogenesis. Despite all the molecular evidence for the genetic basis of these diseases, how mutant poly-Q p...

journal_title：Human molecular genetics

authors： Xiao H,Yu Z,Wu Y,Nan J,Merry DE,Sekiguchi JM,Ferguson DO,Lieberman AP,Dressler GR

更新日期：2012-10-01 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：:Xeroderma pigmentosum (XP) complementation group F was first reported in Japan and most XP-F patients reported to date are Japanese. The clinical features of XP-F patients are rather mild, including late onset of skin cancer. Recently a cDNA that corrects the repair deficiency of cultured XP-F cells was isolated. The ...

journal_title：Human molecular genetics

authors： Matsumura Y,Nishigori C,Yagi T,Imamura S,Takebe H

更新日期：1998-06-01 00:00:00

abstract：:The molecular mechanisms regulating expression of utrophin A are of therapeutic interest since upregulating its expression at the sarcolemma can compensate for the lack of dystrophin in animal models of Duchenne Muscular Dystrophy (DMD). The 5'-UTR of utrophin A has been previously shown to drive cap-independent inter...

journal_title：Human molecular genetics

authors： Miura P,Coriati A,Bélanger G,De Repentigny Y,Lee J,Kothary R,Holcik M,Jasmin BJ

更新日期：2010-04-01 00:00:00

abstract：:The human POLG gene encodes the catalytic subunit of mitochondrial DNA polymerase gamma (pol gamma). Mutations in pol gamma are associated with a spectrum of disease phenotypes including autosomal dominant and recessive forms of progressive external ophthalmoplegia, spino-cerebellar ataxia and epilepsy, and Alpers-Hut...

journal_title：Human molecular genetics

authors： Baruffini E,Lodi T,Dallabona C,Puglisi A,Zeviani M,Ferrero I

更新日期：2006-10-01 00:00:00

abstract：:l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid (CSF). Nuclear magnetic resonance imaging shows distinct a...

journal_title：Human molecular genetics

authors： Topçu M,Jobard F,Halliez S,Coskun T,Yalçinkayal C,Gerceker FO,Wanders RJ,Prud'homme JF,Lathrop M,Ozguc M,Fischer J

更新日期：2004-11-15 00:00:00

abstract：:Lafora progressive myoclonus epilepsy, caused by defective laforin or malin, insidiously present in normal teenagers with cognitive decline, followed by rapidly intractable epilepsy, dementia and death. Pathology reveals neurodegeneration with neurofibrillary tangle formation and Lafora bodies (LBs). LBs are deposits ...

journal_title：Human molecular genetics

authors： Lohi H,Ianzano L,Zhao XC,Chan EM,Turnbull J,Scherer SW,Ackerley CA,Minassian BA

更新日期：2005-09-15 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：:Uterine leiomyomata (UL), also known as fibroids, are the most common pelvic tumors in women of reproductive age and are the primary indication for hysterectomy in the USA. Many lines of evidence indicate a strong genetic component to the development of these tumors. In fact, approximately 40% of UL have non-random, t...

journal_title：Human molecular genetics

authors： Hodge JC,Morton CC

更新日期：2007-04-15 00:00:00

abstract：:Immunoglobulin-like domain containing receptor 1 (ILDR1) is a poorly characterized gene that was first identified in lymphoma cells. Recently, ILDR1 has been found to be responsible for autosomal recessive hearing impairment DFNB42. Patients with ILDR1 mutations cause bilateral non-progressive moderate-to-profound sen...

journal_title：Human molecular genetics

authors： Sang Q,Zhang J,Feng R,Wang X,Li Q,Zhao X,Xing Q,Chen W,Du J,Sun S,Chai R,Liu D,Jin L,He L,Li H,Wang L

更新日期：2014-12-01 00:00:00

abstract：:The Menkes disease gene encodes a P-type transmembrane ATPase (ATP7A) that translocates cytosolic copper ions across intracellular membranes of compartments along the secretory pathway. ATP7A moves from the trans-Golgi network (TGN) to the cell surface in response to exogenously added copper ions and recycles back to ...

journal_title：Human molecular genetics

authors： Cobbold C,Coventry J,Ponnambalam S,Monaco AP

更新日期：2003-07-01 00:00:00

abstract：:Cell pathology in lysosomal storage diseases is characterized by the formation of distended vacuoles with characteristics of lysosomes. Our previous studies in mucopolysaccharidosis type IIIB (MPSIIIB), a disease in which a genetic defect induces the accumulation of undigested heparan sulfate (HS) fragments, led to th...

journal_title：Human molecular genetics

authors： Roy E,Bruyère J,Flamant P,Bigou S,Ausseil J,Vitry S,Heard JM

更新日期：2012-04-01 00:00:00

abstract：:Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder that results from the expansion of a cryptic CAG repeat within the exon 1 of the SCA2 gene. The CAG repeat in normal individuals varies in length from 14 to 31 repeats and is frequently interrupted by one or more CAA triplets, whereas ...

journal_title：Human molecular genetics

authors： Choudhry S,Mukerji M,Srivastava AK,Jain S,Brahmachari SK

更新日期：2001-10-01 00:00:00

abstract：:Clinical, electrophysiological and genetic linkage studies were performed on a large autosomal dominant family with Charcot-Marie-Tooth axonal neuropathy type 2 (CMT2) with 38 members of which 14 were affected. Onset of the disease was between 16 and 30 years of age with weakness and atrophy of the hands more severe t...

journal_title：Human molecular genetics

authors： Ionasescu V,Searby C,Sheffield VC,Roklina T,Nishimura D,Ionasescu R

更新日期：1996-09-01 00:00:00

abstract：:Leptomeningeal glioneuronal heterotopia (LGH) is a focal malformation of the cerebral cortex and frequently found in patients with thanatophoric dysplasia (TD). The pathophysiological mechanisms underlying LGH formation are still largely unclear because of difficulties in obtaining brain samples from human TD patients...

journal_title：Human molecular genetics

authors： Matsumoto N,Kobayashi N,Uda N,Hirota M,Kawasaki H

更新日期：2018-03-15 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：:Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage renal disease. The pathogenesis of defective PT cellular transpor...

journal_title：Human molecular genetics

authors： Raggi C,Luciani A,Nevo N,Antignac C,Terryn S,Devuyst O

更新日期：2014-05-01 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：:Nance-Horan syndrome (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, dental anomalies, facial dysmorphism and mental retardation. Null mutations in a novel gene, NHS, cause the syndrome. The NHS gene appears to have multiple isoforms as a result of alternative transcriptio...

journal_title：Human molecular genetics

authors： Brooks SP,Coccia M,Tang HR,Kanuga N,Machesky LM,Bailly M,Cheetham ME,Hardcastle AJ

更新日期：2010-06-15 00:00:00