A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1.

abstract：:Transcobalamin II (TC II) deficiency is a rare autosomal recessive disease leading to cobalamin (Cbl; Vitamin B12) deficiency characterized by failure to thrive, megaloblastic anemia, impaired immunodefence and neurological manifestations. By means of Southern blotting and sequence analysis of TC II cDNA amplified fro...

journal_title：Human molecular genetics

authors： Li N,Rosenblatt DS,Kamen BA,Seetharam S,Seetharam B

更新日期：1994-10-01 00:00:00

abstract：:Polycystin-1 (PC1), encoded by the PKD1 gene that is mutated in the autosomal dominant polycystic kidney disease, regulates a number of processes including bone development. Activity of the transcription factor RunX2, which controls osteoblast differentiation, is reduced in Pkd1 mutant mice but the mechanism governing...

journal_title：Human molecular genetics

authors： Merrick D,Mistry K,Wu J,Gresko N,Baggs JE,Hogenesch JB,Sun Z,Caplan MJ

更新日期：2019-01-01 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：:With 46 subunits, human mitochondrial complex I is the largest enzyme of the oxidative phosphorylation system. We have studied the assembly of complex I in cultured human cells. This will provide essential information about the nature of complex I deficiencies and will enhance our understanding of mitochondrial diseas...

journal_title：Human molecular genetics

authors： Ugalde C,Vogel R,Huijbens R,Van Den Heuvel B,Smeitink J,Nijtmans L

更新日期：2004-10-15 00:00:00

abstract：:To understand the cause of Parkinson's disease (PD), it is important to determine the functional interactions between factors linked to the disease. Parkin is associated with autosomal recessive early-onset PD, and controls the transcription of PGC-1α, a master regulator of mitochondrial biogenesis. These two factors ...

journal_title：Human molecular genetics

authors： Zheng L,Bernard-Marissal N,Moullan N,D'Amico D,Auwerx J,Moore DJ,Knott G,Aebischer P,Schneider BL

更新日期：2017-02-01 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：:The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype consisting of three non-synonymous polymorphisms (C157R, M378V, M681T) ...

journal_title：Human molecular genetics

authors： Suzuki Y,Pasch A,Bonny O,Mohaupt MG,Hediger MA,Frey FJ

更新日期：2008-06-01 00:00:00

abstract：:Gene amplification plays a critical role in tumor progression. Hence, understanding the factors triggering this process in human cancers is an important concern. Unfortunately, the structures formed at early stages are usually unavailable for study, hampering the identification of the initiating events in tumors. Here...

journal_title：Human molecular genetics

authors： Ciullo M,Debily MA,Rozier L,Autiero M,Billault A,Mayau V,El Marhomy S,Guardiola J,Bernheim A,Coullin P,Piatier-Tonneau D,Debatisse M

更新日期：2002-11-01 00:00:00

abstract：:Meta-analysis of genome-wide association studies has resulted in the identification of hundreds of genetic variants associated with growth and stature. Determining how these genetic variants influence growth is important, but most are non-coding, and there is little understanding of how these variants contribute to ad...

journal_title：Human molecular genetics

authors： Schierding W,Antony J,Cutfield WS,Horsfield JA,O'Sullivan JM

更新日期：2016-08-01 00:00:00

abstract：:PTEN-induced putative kinase 1 (PINK1) and Parkin act in a common pathway to regulate mitochondrial dynamics, the involvement of which in the pathogenesis of Parkinson's disease (PD) is increasingly being appreciated. However, how the PINK1/Parkin pathway influences mitochondrial function is not well understood, and t...

journal_title：Human molecular genetics

authors： Yu W,Sun Y,Guo S,Lu B

更新日期：2011-08-15 00:00:00

abstract：:Proteins and protein networks associated with cochlear pathogenesis in the Ames waltzer (av) mouse, a model for deafness in Usher syndrome 1F (USH1F), were identified. Cochlear protein from wild-type and av mice at postnatal day 30, a time point in which cochlear pathology is well established, was analyzed by quantita...

journal_title：Human molecular genetics

authors： Chance MR,Chang J,Liu S,Gokulrangan G,Chen DH,Lindsay A,Geng R,Zheng QY,Alagramam K

更新日期：2010-04-15 00:00:00

abstract：:Four naturally occurring sequence variations have been found in the coding region of the DYT1 gene encoding torsinA. One of these, a 3 bp (DeltaGAG) deletion, underlies dominantly inherited cases of early-onset torsion dystonia. Others, including a single nucleotide polymorphism that replaces aspartic acid (D) at resi...

journal_title：Human molecular genetics

authors： Kock N,Naismith TV,Boston HE,Ozelius LJ,Corey DP,Breakefield XO,Hanson PI

更新日期：2006-04-15 00:00:00

abstract：:An amphibian homologue of the human cystic fibrosis transmembrane conductance regulator (CFTR) gene has been isolated from Xenopus laevis by polymerase chain reaction (PCR) amplification. The 4455bp sequence encodes a predicted polypeptide of 1485 amino acids which has an overall homology at the amino acid level of 77...

journal_title：Human molecular genetics

authors： Tucker SJ,Tannahill D,Higgins CF

更新日期：1992-05-01 00:00:00

abstract：:PAX genes encode nuclear transcription factors which are rapidly becoming regarded as major controllers of developmental processes in both vertebrates and invertebrates. Mutations in murine Pax genes underlie three natural mouse alleles and two corresponding human syndromes. Murine Pax genes have been shown to be prot...

journal_title：Human molecular genetics

authors： Stuart ET,Gruss P

更新日期：1995-01-01 00:00:00

abstract：:The CCG rich sequence immediately 3' to the CAG repeat that is expanded in Huntington's disease (HD) has recently been shown to be polymorphic with at least 4 alleles differing by multiples of 3 bp being found in the normal population. We have studied the allele distribution in 180 HD families resident in Scotland and...

journal_title：Human molecular genetics

authors： Barron LH,Rae A,Holloway S,Brock DJ,Warner JP

更新日期：1994-01-01 00:00:00

abstract：:Acetazolamide responsive hereditary paroxysmal cerebellar ataxia (APCA) is a rare autosomal dominant disorder characterized by attacks of cerebellar ataxia and dysarthria with normal or near normal neurologic function between attacks. A genome-wide search using polymorphic di- and tri-nucleotide repeats was initiated ...

journal_title：Human molecular genetics

authors： von Brederlow B,Hahn AF,Koopman WJ,Ebers GC,Bulman DE

更新日期：1995-02-01 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：:Huntingtin-associated protein 1 (Hap1) is the first huntingtin interacting protein identified in a yeast two-hybrid screen. Although Hap1 expression has been demonstrated in neuronal and non-neuronal tissues, its molecular role is poorly understood. Recently, it has been shown that targeted disruption of Hap1 in mice ...

journal_title：Human molecular genetics

authors： Dragatsis I,Zeitlin S,Dietrich P

更新日期：2004-12-15 00:00:00

abstract：:Paraoxonase is an arylesterase enzyme that is expressed in the liver and found in the circulation in association with apoA1 and the high-density lipoprotein, and prevents the accumulation of oxidized lipids in low-density lipoproteins in vitro. Common polymorphisms in genes encoding paraoxonase are established risk fa...

journal_title：Human molecular genetics

authors： Erlich PM,Lunetta KL,Cupples LA,Huyck M,Green RC,Baldwin CT,Farrer LA,MIRAGE Study Group.

更新日期：2006-01-01 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：: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：:Mutations in MECP2 cause the neurodevelopmental disorder Rett syndrome (RTT OMIM 312750). Alternative inclusion of MECP2/Mecp2 exon 1 with exons 3 and 4 encodes MeCP2-e1 or MeCP2-e2 protein isoforms with unique amino termini. While most MECP2 mutations are located in exons 3 and 4 thus affecting both isoforms, MECP2 e...

journal_title：Human molecular genetics

authors： Yasui DH,Gonzales ML,Aflatooni JO,Crary FK,Hu DJ,Gavino BJ,Golub MS,Vincent JB,Carolyn Schanen N,Olson CO,Rastegar M,Lasalle JM

更新日期：2014-05-01 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：:CUL4A and CUL4B are closely related cullin family members and can each assemble a Cullin-RING E3 ligase complex (CRL) and participate in a variety of biological processes. While the CRLs formed by the two cullin members may have common targets, the two appeared to have very different consequences when mutated or disru...

journal_title：Human molecular genetics

authors： Zhao X,Jiang B,Hu H,Mao F,Mi J,Li Z,Liu Q,Shao C,Gong Y

更新日期：2015-02-01 00:00:00

abstract：:Coronary heart disease (CHD) is the leading cause of death worldwide. Mitochondrial genetic determinant for the development of CHD remains poorly explored. We report there the clinical, genetic, molecular and biochemical characterization of a four-generation Chinese family with maternally inherited CHD. Thirteen of 32...

journal_title：Human molecular genetics

authors： Jia Z,Wang X,Qin Y,Xue L,Jiang P,Meng Y,Shi S,Wang Y,Qin Mo J,Guan MX

更新日期：2013-10-15 00:00:00

abstract：:Polyglutamine (polyQ) diseases are a growing class of inherited neurodegenerative diseases including Huntington's disease, which are caused by abnormal expansions of the polyQ stretch in each unrelated disease protein. The expanded polyQ stretch is thought to confer toxic properties on the disease proteins through alt...

journal_title：Human molecular genetics

authors： Nagai Y,Fujikake N,Ohno K,Higashiyama H,Popiel HA,Rahadian J,Yamaguchi M,Strittmatter WJ,Burke JR,Toda T

更新日期：2003-06-01 00:00:00

abstract：:Differential allelic expression has been shown to be common in mice, humans and maize, and variability in the expression of polymorphic alleles has been associated with human disease. Here, we describe the differential expression pattern of Paraoxonase-1, a gene involved in lipid metabolism and implicated in the forma...

journal_title：Human molecular genetics

authors： Parker-Katiraee L,Bousiaki E,Monk D,Moore GE,Nakabayashi K,Scherer SW

更新日期：2008-11-01 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：:Circletail is one of only two mouse mutants that exhibit the most severe form of neural tube defect (NTD), termed craniorachischisis. In this disorder, almost the entire brain and spinal cord is affected, owing to a failure to initiate neural tube closure. Craniorachischisis is a significant cause of lethality in huma...

journal_title：Human molecular genetics

authors： Murdoch JN,Henderson DJ,Doudney K,Gaston-Massuet C,Phillips HM,Paternotte C,Arkell R,Stanier P,Copp AJ

更新日期：2003-01-15 00:00:00

abstract：:Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by defects in the acid alpha-glucosidase gene, which leads to lysosomal glycogen accumulation and enlargement of the lysosomes mainly in cardiac and muscle tissues, resulting in fatal hypertrophic cardiomyopathy and res...

journal_title：Human molecular genetics

authors： Douillard-Guilloux G,Raben N,Takikita S,Batista L,Caillaud C,Richard E

更新日期：2008-12-15 00:00:00