Genome-wide methylation patterns in normal and uniparental early mouse embryos.

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：:Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA) the pigment deficiency involves the skin, hair, and eyes, whereas in ocular albinism (OA) the defect involves principally the visual system. Type I (tyrosinase-deficient) OCA results from ...

journal_title：Human molecular genetics

authors： Spritz RA

更新日期：1994-01-01 00:00:00

abstract：:In order to identify genes in the Prader-Willi/Angelman syndrome critical region, radiolabeled cDNA probes from poly(A)+ RNA from mouse tissues were used to identify potential exon-containing genomic DNA fragments in cosmid or phage clones from appropriate yeast artificial chromosomes, and these fragments were subsequ...

journal_title：Human molecular genetics

authors： Nakao M,Sutcliffe JS,Durtschi B,Mutirangura A,Ledbetter DH,Beaudet AL

更新日期：1994-02-01 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：:The transient receptor potential vanilloid 1 (TRPV1) protein is a pain receptor that elicits a hot sensation when an organism eats the capsaicin of red chili peppers. This calcium (Ca2+)-permeable cation channel is mostly expressed in the peripheral nervous system sensory neurons but also in the central nervous system...

journal_title：Human molecular genetics

authors： Kim J,Lee S,Kim J,Ham S,Park JHY,Han S,Jung YK,Shim I,Han JS,Lee KW,Kim J

更新日期：2020-01-15 00:00:00

abstract：:The APOE epsilon4 allele is a strong genetic susceptibility factor for Alzheimer's disease. Interaction with other biological factors may modulate the effect of the apoE isoforms. However, previous work suggested that other genetic variability within the APOE locus, influencing the effect of the epsilon4 allele, may e...

journal_title：Human molecular genetics

authors： Lambert JC,Pérez-Tur J,Dupire MJ,Galasko D,Mann D,Amouyel P,Hardy J,Delacourte A,Chartier-Harlin MC

更新日期：1997-11-01 00:00:00

abstract：:The androgen insensitivity syndrome (AIS) is a disorder of male sexual development resulting in a wide range of clinical phenotypes. AIS is classified into two phenotypic forms: complete (CAIS) and partial (PAIS). To determine the molecular basis of the phenotypic diversity in AIS, we have studied 27 subjects (13 CAIS...

journal_title：Human molecular genetics

authors： Batch JA,Williams DM,Davies HR,Brown BD,Evans BA,Hughes IA,Patterson MN

更新日期：1992-10-01 00:00:00

abstract：:Ataxia oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia. Recent evidence suggests that the protein defective in this syndrome, senataxin (SETX), functions in RNA processing to protect the integrity of the genome. To date, only patient-derived lymphoblastoid cells, fibroblasts and SETX k...

journal_title：Human molecular genetics

authors： Becherel OJ,Sun J,Yeo AJ,Nayler S,Fogel BL,Gao F,Coppola G,Criscuolo C,De Michele G,Wolvetang E,Lavin MF

更新日期：2015-10-15 00:00:00

abstract：:The early growth response 2 gene ( EGR2 ) is a Cys2His2zinc finger transcription factor which is thought to play a role in the regulation of peripheral nervous system myelination. This idea is based partly on the phenotype of homozygous Krox20 ( Egr2 ) knockout mice, which display hypomyelination of the PNS and a bloc...

journal_title：Human molecular genetics

authors： Warner LE,Svaren J,Milbrandt J,Lupski JR

更新日期：1999-07-01 00:00:00

abstract：:We studied the association between common haplotypes in six relevant lipid metabolism genes with plasma lipid levels. We selected single-nucleotide polymorphisms (SNPs) in the cholesterol ester transfer protein (CETP), lipoprotein lipase (LPL), hepatic triglyceride lipase (HL), low-density lipoprotein cholesterol rece...

journal_title：Human molecular genetics

authors： Knoblauch H,Bauerfeind A,Krähenbühl C,Daury A,Rohde K,Bejanin S,Essioux L,Schuster H,Luft FC,Reich JG

更新日期：2002-06-01 00:00:00

abstract：:The molecular genetic basis that leads to Lewy Body (LB) pathology in 15-20% of Alzheimer disease cases (LBV/AD) was largely unknown. Alpha-synuclein (SNCA) and Leucine-rich repeat kinase2 (LRRK2) have been implicated in the pathogenesis of Parkinson's disease (PD), the prototype of LB spectrum disorders. We tested th...

journal_title：Human molecular genetics

authors： Linnertz C,Lutz MW,Ervin JF,Allen J,Miller NR,Welsh-Bohmer KA,Roses AD,Chiba-Falek O

更新日期：2014-09-15 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：:The maintenance of mitochondrial DNA (mtDNA) is critically dependent upon polymerase-gamma (pol-gamma), encoded by the nuclear gene POLG. Over the last 5 years, it has become clear that mutations of POLG are a major cause of human disease. Secondary mtDNA defects characterize these disorders, with mtDNA depletion, mul...

journal_title：Human molecular genetics

authors： Hudson G,Chinnery PF

更新日期：2006-10-15 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

abstract：:Successful human development is dependent upon a cascade of events following fertilization. Unfortunately, knowledge of these critical events in humans is remarkably incomplete. Although hundreds of thousands of human embryos are cultured yearly at infertility centers worldwide, the vast majority fail to develop in cu...

journal_title：Human molecular genetics

authors： Dobson AT,Raja R,Abeyta MJ,Taylor T,Shen S,Haqq C,Pera RA

更新日期：2004-07-15 00:00:00

abstract：:The RIG-I-like receptors (RLRs)--RIG-I, IFIH1 (or MDA5) and LGP2--are thought to be key actors in the innate immune system, as they play a major role in sensing RNA viruses in the cytosol of host cells. Despite the increasingly recognized importance of the RLR family in antiviral immunity, no population genetic studie...

journal_title：Human molecular genetics

authors： Vasseur E,Patin E,Laval G,Pajon S,Fornarino S,Crouau-Roy B,Quintana-Murci L

更新日期：2011-11-15 00:00:00

abstract：:Glomerular disease is one of the most common causes of end-stage renal failure. Increasing evidence suggests that these glomerulopathies are frequently caused by primary lesions in the renal podocytes. One of the major consequences of podocyte lesions is the accumulation of mesangial matrix in the glomerular basement ...

journal_title：Human molecular genetics

authors： Guo JK,Menke AL,Gubler MC,Clarke AR,Harrison D,Hammes A,Hastie ND,Schedl A

更新日期：2002-03-15 00:00:00

abstract：:Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected s...

journal_title：Human molecular genetics

authors： Slavotinek AM,Mehrotra P,Nazarenko I,Tang PL,Lao R,Cameron D,Li B,Chu C,Chou C,Marqueling AL,Yahyavi M,Cordoro K,Frieden I,Glaser T,Prescott T,Morren MA,Devriendt K,Kwok PY,Petkovich M,Desnick RJ

更新日期：2013-02-15 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 autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD) is causally related to a short Eco RI fragment detected by probe p13E-11. This remnant fragment is the result of a deletion of an integral number of tandemly arrayed 3.3 kb repeat units (D4Z4) on 4q35. Despite intensive efforts, no transcrib...

journal_title：Human molecular genetics

authors： Lemmers RJ,van der Maarel SM,van Deutekom JC,van der Wielen MJ,Deidda G,Dauwerse HG,Hewitt J,Hofker M,Bakker E,Padberg GW,Frants RR

更新日期：1998-08-01 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：:Female aging entails a decline in fertility in mammals, manifested by reduced oocyte reserves and poor oocyte quality accompanied by chromosomal anomalies and reduced litter size. In addition to compromised genetic integrity, recent studies suggest that epigenetic mechanisms may be altered in aging oocytes, with age a...

journal_title：Human molecular genetics

authors： Lopes FL,Fortier AL,Darricarrère N,Chan D,Arnold DR,Trasler JM

更新日期：2009-06-01 00:00:00

abstract：:Genetic variants in one-carbon folate metabolism have been identified as risk factors for disease because they may impair the production or use of one-carbon folates required for nucleotide synthesis and methylation. p.R653Q (1958G>A) is a single-nucleotide polymorphism (SNP) in the 10-formyltetrahydrofolate (formylTH...

journal_title：Human molecular genetics

authors： Christensen KE,Deng L,Leung KY,Arning E,Bottiglieri T,Malysheva OV,Caudill MA,Krupenko NI,Greene ND,Jerome-Majewska L,MacKenzie RE,Rozen R

更新日期：2013-09-15 00:00:00

abstract：:Imputation is commonly used in genome-wide association studies to expand the set of genetic variants available for analysis. Larger and more diverse reference panels, such as the final Phase 3 of the 1000 Genomes Project, hold promise for improving imputation accuracy in genetically diverse populations such as Hispani...

journal_title：Human molecular genetics

authors： Nelson SC,Stilp AM,Papanicolaou GJ,Taylor KD,Rotter JI,Thornton TA,Laurie CC

更新日期：2016-08-01 00:00:00

abstract：:A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified via positional cloning strategies. We now report messenger RNA expression in fibroblasts from 6 unrelated ALD patients. Four patients lacked the normal 4.2 kb transcript, three of them having deletions of the ALD gene. A fifth patient with a ...

journal_title：Human molecular genetics

authors： Cartier N,Sarde CO,Douar AM,Mosser J,Mandel JL,Aubourg P

更新日期：1993-11-01 00:00:00

abstract：:Slow-channel syndrome (SCS) is a congenital myasthenic disorder caused by point mutations in subunits of skeletal muscle acetylcholine receptor leading to Ca(2+) overload and degeneration of the postsynaptic membrane, nuclei and mitochondria of the neuromuscular junction (NMJ). In both SCS muscle biopsies and transgen...

journal_title：Human molecular genetics

authors： Zhu H,Pytel P,Gomez CM

更新日期：2014-01-01 00:00:00

abstract：:The internal structure of different alleles of the minisatellite present at the 3' end of the apolipoprotein B (ApoB) gene has been analysed by different approaches including sequencing. The repeat unit arrangements of the minisatellite on 570 chromosomes belonging to European and African populations were thus determi...

journal_title：Human molecular genetics

authors： Buresi C,Desmarais E,Vigneron S,Lamarti H,Smaoui N,Cambien F,Roizes G

更新日期：1996-01-01 00:00:00

abstract：:During mitosis, Kif11, a kinesin motor protein, promotes bipolar spindle formation and chromosome movement, and during interphase, Kif11 mediates diverse trafficking processes in the cytoplasm. In humans, inactivating mutations in KIF11 are associated with (1) retinal hypovascularization with or without microcephaly a...

journal_title：Human molecular genetics

authors： Wang Y,Smallwood PM,Williams J,Nathans J

更新日期：2020-05-08 00:00:00

abstract：:Biliary atresia (BA) is characterized by the progressive fibrosclerosing obliteration of the extrahepatic biliary system during the first few weeks of life. Despite early diagnosis and prompt surgical intervention, the disease progresses to cirrhosis in many patients. The current theory for the pathogenesis of BA prop...

journal_title：Human molecular genetics

authors： Garcia-Barceló MM,Yeung MY,Miao XP,Tang CS,Cheng G,So MT,Ngan ES,Lui VC,Chen Y,Liu XL,Hui KJ,Li L,Guo WH,Sun XB,Tou JF,Chan KW,Wu XZ,Song YQ,Chan D,Cheung K,Chung PH,Wong KK,Sham PC,Cherny SS,Tam PK

更新日期：2010-07-15 00:00:00

abstract：:Proximal spinal muscular atrophy (SMA) is caused by mutations in the survival motor neuron gene (SMN1). In humans, two nearly identical copies of SMN exist and differ only by a single non-polymorphic C-->T nucleotide transition in exon 7. SMN1 contains a 'C' nucleotide at the +6 position of exon 7 and produces primari...

journal_title：Human molecular genetics

authors： DiDonato CJ,Lorson CL,De Repentigny Y,Simard L,Chartrand C,Androphy EJ,Kothary R

更新日期：2001-11-01 00:00:00