Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

abstract：:Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensit...

journal_title：Human molecular genetics

authors： Gloyn AL,Reimann F,Girard C,Edghill EL,Proks P,Pearson ER,Temple IK,Mackay DJ,Shield JP,Freedenberg D,Noyes K,Ellard S,Ashcroft FM,Gribble FM,Hattersley AT

更新日期：2005-04-01 00:00:00

abstract：:Inherited mitochondrial optic neuropathies, such as Leber's hereditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial proteins that lead to defects in mitochondrial complex 1-driven ATP synthesis, and cause specific retinal ganglion cell (RGC) loss. Complex 1 def...

journal_title：Human molecular genetics

authors： Yu AK,Datta S,McMackin MZ,Cortopassi GA

更新日期：2017-12-15 00:00:00

abstract：:Spliceosomal Uridine-rich small ribonucleo protein (U snRNP) assembly is an active process mediated by the macromolecular survival motor neuron (SMN) complex. This complex contains the SMN protein and six additional proteins, named Gemin2-7, according to their localization to nuclear structures termed gems. Here, we p...

journal_title：Human molecular genetics

authors： Grimmler M,Otter S,Peter C,Müller F,Chari A,Fischer U

更新日期：2005-10-15 00:00:00

abstract：:Newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) revealed a higher birth prevalence and genotypic variability than previously estimated, including numerous novel missense mutations in the ACADM gene. On average, these mutations are associated with milder biochemical phenotypes raising...

journal_title：Human molecular genetics

authors： Maier EM,Gersting SW,Kemter KF,Jank JM,Reindl M,Messing DD,Truger MS,Sommerhoff CP,Muntau AC

更新日期：2009-05-01 00:00:00

abstract：:Increasing evidence suggests that the accumulation of amyloid beta (Aβ) in synapses and synaptic mitochondria causes synaptic mitochondrial failure and synaptic degeneration in Alzheimer's disease (AD). The purpose of this study was to better understand the effects of Aβ in mitochondrial activity and synaptic alterati...

journal_title：Human molecular genetics

authors： Calkins MJ,Manczak M,Mao P,Shirendeb U,Reddy PH

更新日期：2011-12-01 00:00:00

abstract：:A genetic contribution to the pathogenesis of panic disorder has been demonstrated by clinical genetic studies. Molecular genetic studies have focused on candidate genes suggested by the molecular mechanisms implied in the action of drugs utilized for therapy or in challenge tests. One class of drugs effective in the ...

journal_title：Human molecular genetics

authors： Deckert J,Catalano M,Syagailo YV,Bosi M,Okladnova O,Di Bella D,Nöthen MM,Maffei P,Franke P,Fritze J,Maier W,Propping P,Beckmann H,Bellodi L,Lesch KP

更新日期：1999-04-01 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：:A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene within this locus (encoding the protein myocilin) subsequently was shown to harbor mutations in 2-4% of primary open angle glaucoma patients. A total of 1703 patients was screened from five different populations representing three racial group...

journal_title：Human molecular genetics

authors： Fingert JH,Héon E,Liebmann JM,Yamamoto T,Craig JE,Rait J,Kawase K,Hoh ST,Buys YM,Dickinson J,Hockey RR,Williams-Lyn D,Trope G,Kitazawa Y,Ritch R,Mackey DA,Alward WL,Sheffield VC,Stone EM

更新日期：1999-05-01 00:00:00

abstract：:Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder, characterised by the association of branchial, otic and renal anomalies with variable degrees of severity. We have recently identified EYA1 , a human homologue of the Drosophila eyes absent gene, as the gene underlying this syndrome. The products of ...

journal_title：Human molecular genetics

authors： Abdelhak S,Kalatzis V,Heilig R,Compain S,Samson D,Vincent C,Levi-Acobas F,Cruaud C,Le Merrer M,Mathieu M,König R,Vigneron J,Weissenbach J,Petit C,Weil D

更新日期：1997-12-01 00:00:00

abstract：:To elucidate the molecular mechanisms of impaired elastic fiber formation in recessive cutis laxa, we have investigated two disease-causing missense substitutions in fibulin-5, C217R and S227P. Pulse-chase immunoprecipitation experiments indicated that S227P mutant fibulin-5 was synthesized and secreted by skin fibrob...

journal_title：Human molecular genetics

authors： Hu Q,Loeys BL,Coucke PJ,De Paepe A,Mecham RP,Choi J,Davis EC,Urban Z

更新日期：2006-12-01 00:00:00

abstract：:Clinical trials are underway for the treatment of tuberous sclerosis (TSC)-associated tumours using mTOR inhibitors. Here, we show that many of the earliest renal lesions from Tsc1+/- and Tsc2+/- mice do not exhibit mTOR activation, suggesting that pharmacological targeting of an alternative pathway may be necessary t...

journal_title：Human molecular genetics

authors： Bonnet CS,Aldred M,von Ruhland C,Harris R,Sandford R,Cheadle JP

更新日期：2009-06-15 00:00:00

abstract：:An unresolved issue about many neurodegenerative diseases is why neurons are particularly sensitive to defects in ubiquitous cellular processes. One example is Niemann Pick type C1, caused by defects in cholesterol trafficking in all cells, but where neurons are preferentially damaged. Understanding this selective fai...

journal_title：Human molecular genetics

authors： Ordonez MP,Roberts EA,Kidwell CU,Yuan SH,Plaisted WC,Goldstein LS

更新日期：2012-06-15 00:00:00

abstract：:Mitochondria contain a dedicated translation system, which is responsible for the intramitochondrial synthesis of 13 mitochondrial DNA (mtDNA)-encoded polypeptides essential for the biogenesis of oxidative phosphorylation (OXPHOS) complexes I and III-V. Mutations in nuclear genes encoding factors involved in mitochond...

journal_title：Human molecular genetics

authors： Pulman J,Ruzzenente B,Bianchi L,Rio M,Boddaert N,Munnich A,Rötig A,Metodiev MD

更新日期：2019-05-01 00:00:00

abstract：:The DUX4 transcription factor is normally expressed in the cleavage-stage embryo and regulates genes involved in embryonic genome activation. Misexpression of DUX4 in skeletal muscle, however, is toxic and causes facioscapulohumeral muscular dystrophy (FSHD). We recently showed DUX4-induced toxicity is due, in part, t...

journal_title：Human molecular genetics

authors： Shadle SC,Bennett SR,Wong CJ,Karreman NA,Campbell AE,van der Maarel SM,Bass BL,Tapscott SJ

更新日期：2019-12-01 00:00:00

abstract：:G protein-coupled receptor 154 (GPR154) is a recently discovered asthma susceptibility gene upregulated in the airways of asthma patients. We previously observed increased pulmonary mRNA expression of the murine ortholog Gpr154 in a mouse model of ovalbumin (OVA)-induced inflammation. However, the expression profile o...

journal_title：Human molecular genetics

authors： Pulkkinen V,Majuri ML,Wang G,Holopainen P,Obase Y,Vendelin J,Wolff H,Rytilä P,Laitinen LA,Haahtela T,Laitinen T,Alenius H,Kere J,Rehn M

更新日期：2006-05-15 00:00:00

abstract：:Plasmalogens, the most prominent ether (phospho)lipids in mammals, are structural components of most cellular membranes. Due to their physicochemical properties and abundance in the central nervous system, a role of plasmalogens in neurotransmission has been proposed, but conclusive data are lacking. Here, we targeted...

journal_title：Human molecular genetics

authors： Dorninger F,König T,Scholze P,Berger ML,Zeitler G,Wiesinger C,Gundacker A,Pollak DD,Huck S,Just WW,Forss-Petter S,Pifl C,Berger J

更新日期：2019-06-15 00:00:00

abstract：:Cystic fibrosis (CF) is a multiorgan recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Gene therapy efforts have focused on treating the lung, since it manifests the most significant life-threatening disease. Over two decades have past since the first...

journal_title：Human molecular genetics

authors： Yan Z,McCray PB Jr,Engelhardt JF

更新日期：2019-10-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a devastating X-linked disease affecting ~1 in 5000 males. DMD patients exhibit progressive muscle degeneration and weakness, leading to loss of ambulation and premature death from cardiopulmonary failure. We previously reported that mouse Laminin-111 (msLam-111) protein could redu...

journal_title：Human molecular genetics

authors： Barraza-Flores P,Fontelonga TM,Wuebbles RD,Hermann HJ,Nunes AM,Kornegay JN,Burkin DJ

更新日期：2019-08-15 00:00:00

abstract：:Recent genome-wide association studies (GWAS) have revealed genetic risk factors in autoimmune and inflammatory disorders. Several of the associated genes and underlying pathways are shared by various autoimmune diseases. Rheumatoid arthritis (RA) and coeliac disease (CD) are two autoimmune disorders which have common...

journal_title：Human molecular genetics

authors： Coenen MJ,Trynka G,Heskamp S,Franke B,van Diemen CC,Smolonska J,van Leeuwen M,Brouwer E,Boezen MH,Postma DS,Platteel M,Zanen P,Lammers JW,Groen HJ,Mali WP,Mulder CJ,Tack GJ,Verbeek WH,Wolters VM,Houwen RH,Mearin M

更新日期：2009-11-01 00:00:00

abstract：:Ryanodine receptor type I (RYR1)-related myopathies (RYR1 RM) are a clinically and histopathologically heterogeneous group of conditions that represent the most common subtype of childhood onset non-dystrophic muscle disorders. There are no treatments for this severe group of diseases. A major barrier to therapy devel...

journal_title：Human molecular genetics

authors： Brennan S,Garcia-Castañeda M,Michelucci A,Sabha N,Malik S,Groom L,Wei LaPierre L,Dowling JJ,Dirksen RT

更新日期：2019-09-15 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：:Mandibuloacral dysplasia (MAD; OMIM 248370) is a rare, genetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acro-osteolysis, cutaneous atrophy and lipodystrophy. A homozygous missense mutation, Arg527His, ...

journal_title：Human molecular genetics

authors： Agarwal AK,Fryns JP,Auchus RJ,Garg A

更新日期：2003-08-15 00:00:00

abstract：:Schizophrenia is a severely debilitating psychiatric disease that is hypothesized to have its roots in neurodevelopment. Although the precise neuropathology underlying schizophrenia has remained elusive, there are consistent reports of abnormalities in several brain areas. Chief among these is the hippocampus, an area...

journal_title：Human molecular genetics

authors： Meyer KD,Morris JA

更新日期：2009-09-01 00:00:00

abstract：:Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency results in Lesch-Nyhan disease (LND), where affected individuals exhibit a characteristic neurobehavioral disorder that has been linked with dysfunction of dopaminergic pathways of the basal ganglia. Since the functions of HPRT, a housekeeping enzyme res...

journal_title：Human molecular genetics

authors： Ceballos-Picot I,Mockel L,Potier MC,Dauphinot L,Shirley TL,Torero-Ibad R,Fuchs J,Jinnah HA

更新日期：2009-07-01 00:00:00

abstract：:Friedreich ataxia is commonly caused by large expansions of a GAA triplet-repeat (GAA-TR) sequence in the first intron of the FRDA gene. We used small-pool PCR to analyze somatic variability among 7190 individual FRDA molecules from peripheral blood DNA of subjects carrying 12 different expanded alleles, ranging in si...

journal_title：Human molecular genetics

authors： Sharma R,Bhatti S,Gomez M,Clark RM,Murray C,Ashizawa T,Bidichandani SI

更新日期：2002-09-01 00:00:00

abstract：:The DTNBP1 gene, encoding dysbindin, is now generally considered to be a susceptibility gene for schizophrenia. However, the confidence with which this hypothesis can be held has to be tempered by the poor reproducibility between studies in terms of the exact nature of the associated haplotypes, by the failure so far ...

journal_title：Human molecular genetics

authors： Bray NJ,Preece A,Williams NM,Moskvina V,Buckland PR,Owen MJ,O'Donovan MC

更新日期：2005-07-15 00:00:00

abstract：:Marfan syndrome is an autosomal dominant disorder mainly caused by mutations within FBN1 gene. The disease displays large variability in age of onset or severity and very poor phenotype/genotype correlations have been demonstrated. We investigated the hypothesis that phenotype severity could be related to the variable...

journal_title：Human molecular genetics

authors： Aubart M,Gross MS,Hanna N,Zabot MT,Sznajder M,Detaint D,Gouya L,Jondeau G,Boileau C,Stheneur C

更新日期：2015-05-15 00:00:00

abstract：:Mutations in the MYOC gene may lead to juvenile open-angle glaucoma with high intraocular pressure, and are detected in about 4% of people with adult onset glaucoma. Most of these mutations are found in the third exon of the gene encoding the olfactomedin-like domain located at the C terminus of the protein. Another o...

journal_title：Human molecular genetics

authors： Torrado M,Trivedi R,Zinovieva R,Karavanova I,Tomarev SI

更新日期：2002-05-15 00:00:00

abstract：:Coproporphyrinogen oxidase is a mitochondrial heme-biosynthetic enzyme that converts coproporphyrinogen to protoporphyrinogen. Inherited deficiency of this enzyme causes the human genetic disease hereditary coproporphyria. Recently, we isolated, sequenced and expressed the cDNA encoding human coproporphyrinogen oxidas...

journal_title：Human molecular genetics

authors： Martasek P,Nordmann Y,Grandchamp B

更新日期：1994-03-01 00:00:00

abstract：:Since recombinant adeno-associated virus (rAAV) was first described as a potential mammalian cell transducing system, frequent reports purportedly solving the problems of scalable production have appeared. Yet few of these processes have enabled the development of robust and economical rAAV production. Two production ...

journal_title：Human molecular genetics

authors： Kotin RM

更新日期：2011-04-15 00:00:00