NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.

abstract：:Fragile X syndrome (FXS), a common inherited form of intellectual disability with learning deficits, results from a loss of fragile X mental retardation protein (FMRP). Despite extensive research, treatment options for FXS remain limited. Since FMRP is known to play an important role in adult hippocampal neurogenesis ...

journal_title：Human molecular genetics

authors： Guo W,Murthy AC,Zhang L,Johnson EB,Schaller EG,Allan AM,Zhao X

更新日期：2012-02-01 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：: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：:Mutations in enzymes involved in sphingolipid metabolism and trafficking cause a variety of neurological disorders, but details of the molecular pathophysiology remain obscure. SPTLC1 encodes one subunit of serine palmitoyltransferase (SPT), the rate-limiting enzyme in sphingolipid synthesis. Mutations in SPTLC1 cause...

journal_title：Human molecular genetics

authors： McCampbell A,Truong D,Broom DC,Allchorne A,Gable K,Cutler RG,Mattson MP,Woolf CJ,Frosch MP,Harmon JM,Dunn TM,Brown RH Jr

更新日期：2005-11-15 00:00:00

abstract：:Carnitine palmitoyltransferase (CPT) II deficiency is the most common inherited disorder of lipid metabolism affecting skeletal muscle. To facilitate the identification of disease-causing mutations in the CPT II gene (CPT1), we have established the genomic organization of this gene. CPT1 spans approximately 20 kb of 1...

journal_title：Human molecular genetics

authors： Verderio E,Cavadini P,Montermini L,Wang H,Lamantea E,Finocchiaro G,DiDonato S,Gellera C,Taroni F

更新日期：1995-01-01 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：:The AFF (AF4/FMR2) family of genes includes four members: AFF1/AF4, AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31. AFF2/FMR2 is silenced in FRAXE intellectual disability, while the other three members have been reported to form fusion genes as a consequence of chromosome translocations with the myeloid/lymphoid or mixed lineag...

journal_title：Human molecular genetics

authors： Melko M,Douguet D,Bensaid M,Zongaro S,Verheggen C,Gecz J,Bardoni B

更新日期：2011-05-15 00:00:00

abstract：:Cataract is one of the major causes of blindness in humans. We describe here an autosomal dominant polymorphic congenital cataract (PCC) which is characterised by wide variations in phenotype of non-nuclear lens opacities, even among affected members of the same family. PCC families included a large, unique pedigree (...

journal_title：Human molecular genetics

authors： Rogaev EI,Rogaeva EA,Korovaitseva GI,Farrer LA,Petrin AN,Keryanov SA,Turaeva S,Chumakov I,St George-Hyslop P,Ginter EK

更新日期：1996-05-01 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

abstract：:Cigarette smoking is a leading modifiable cause of death worldwide. We hypothesized that cigarette smoking induces extensive transcriptomic changes that lead to target-organ damage and smoking-related diseases. We performed a meta-analysis of transcriptome-wide gene expression using whole blood-derived RNA from 10,233...

journal_title：Human molecular genetics

authors： Huan T,Joehanes R,Schurmann C,Schramm K,Pilling LC,Peters MJ,Mägi R,DeMeo D,O'Connor GT,Ferrucci L,Teumer A,Homuth G,Biffar R,Völker U,Herder C,Waldenberger M,Peters A,Zeilinger S,Metspalu A,Hofman A,Uitterlinden

更新日期：2016-11-01 00:00:00

abstract：:Lung cancer demonstrates the highest mortality in the UK. Previous studies have implicated allelic loss at chromosome 17q in the development of non-small cell lung carcinoma (NSCLC), and a number of known and putative tumour-suppressor genes reside within this region. One candidate tumour-suppressor gene is cytoglobin...

journal_title：Human molecular genetics

authors： Xinarianos G,McRonald FE,Risk JM,Bowers NL,Nikolaidis G,Field JK,Liloglou T

更新日期：2006-07-01 00:00:00

abstract：:Several known or putative glycosyltransferases are required for the synthesis of laminin-binding glycans on alpha-dystroglycan (αDG), including POMT1, POMT2, POMGnT1, LARGE, Fukutin, FKRP, ISPD and GTDC2. Mutations in these glycosyltransferase genes result in defective αDG glycosylation and reduced ligand binding by α...

journal_title：Human molecular genetics

authors： Buysse K,Riemersma M,Powell G,van Reeuwijk J,Chitayat D,Roscioli T,Kamsteeg EJ,van den Elzen C,van Beusekom E,Blaser S,Babul-Hirji R,Halliday W,Wright GJ,Stemple DL,Lin YY,Lefeber DJ,van Bokhoven H

更新日期：2013-05-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) depletion syndrome (MDS), an autosomal recessive condition, is characterized by variable organ involvement with decreased mtDNA copy number and activities of respiratory chain enzymes in affected tissues. MtDNA depletion has been associated with mutations in nine autosomal genes, including th...

journal_title：Human molecular genetics

authors： Akman HO,Dorado B,López LC,García-Cazorla A,Vilà MR,Tanabe LM,Dauer WT,Bonilla E,Tanji K,Hirano M

更新日期：2008-08-15 00:00:00

abstract：:Huntington's disease is a dominantly inherited neurodegenerative disease caused by the expansion of a CAG repeat in the HTT gene. In addition to the length of the CAG expansion, factors such as genetic background have been shown to contribute to the age at onset of neurological symptoms. A central challenge in underst...

journal_title：Human molecular genetics

authors： Ament SA,Pearl JR,Grindeland A,St Claire J,Earls JC,Kovalenko M,Gillis T,Mysore J,Gusella JF,Lee JM,Kwak S,Howland D,Lee MY,Baxter D,Scherler K,Wang K,Geman D,Carroll JB,MacDonald ME,Carlson G,Wheeler VC,Price N

更新日期：2017-03-01 00:00:00

abstract：:The role of BRCA1 in breast and ovarian tumor suppression has been primarily ascribed to the maintenance of genome integrity. BRCA1 interacts with components of the non-homologous end-joining pathway previously shown to play a role in telomere maintenance in yeast. Here, we provide evidence that links Brca1 with telom...

journal_title：Human molecular genetics

authors： McPherson JP,Hande MP,Poonepalli A,Lemmers B,Zablocki E,Migon E,Shehabeldin A,Porras A,Karaskova J,Vukovic B,Squire J,Hakem R

更新日期：2006-03-15 00:00:00

abstract：:The group of dominant non-dystrophic myotonias, comprising disorders characterized by clinically similar forms of myogenic muscle stiffness, is genetically inhomogeneous. Dominant myotonia congenita (Thomsen's disease) is linked to CLCN1, the gene encoding the major muscle chloride channel, localized on chromosome 7q3...

journal_title：Human molecular genetics

authors： Lehmann-Horn F,Mailänder V,Heine R,George AL

更新日期：1995-08-01 00:00:00

abstract：:Inherited retinal dystrophies are a group of genetically heterogeneous conditions with broad phenotypic heterogeneity. We analyzed a large five-generation pedigree with early-onset recessive retinal degeneration to identify the causative mutation. Linkage analysis and homozygosity mapping combined with exome sequencin...

journal_title：Human molecular genetics

authors： Biswas P,Chavali VR,Agnello G,Stone E,Chakarova C,Duncan JL,Kannabiran C,Homsher M,Bhattacharya SS,Naeem MA,Kimchi A,Sharon D,Iwata T,Riazuddin S,Reddy GB,Hejtmancik JF,Georgiou G,Riazuddin SA,Ayyagari R

更新日期：2016-06-15 00:00:00

abstract：:Smooth muscle cell (SMC) proliferation is a hallmark of vascular injury and disease. Global hypomethylation occurs during SMC proliferation in culture and in vivo during neointimal formation. Regardless of the programmed or stochastic nature of hypomethylation, identifying these changes is important in understanding v...

journal_title：Human molecular genetics

authors： Connelly JJ,Cherepanova OA,Doss JF,Karaoli T,Lillard TS,Markunas CA,Nelson S,Wang T,Ellis PD,Langford CF,Haynes C,Seo DM,Goldschmidt-Clermont PJ,Shah SH,Kraus WE,Hauser ER,Gregory SG

更新日期：2013-12-20 00:00:00

abstract：:Research of cilia has gained significant momentum in the last 15 years, as an increasing number of human genetic diseases were found to be caused by disruption of a protein that localizes to cilia. These ciliopathies are as diverse as the functions of the associated proteins, covering a spectrum of overlapping phenoty...

journal_title：Human molecular genetics

authors： van Reeuwijk J,Arts HH,Roepman R

更新日期：2011-10-15 00:00:00

abstract：:Hay-Wells syndrome, also known as ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (OMIM 106260), is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia, including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip and/or cleft palate. Th...

journal_title：Human molecular genetics

authors： McGrath JA,Duijf PH,Doetsch V,Irvine AD,de Waal R,Vanmolkot KR,Wessagowit V,Kelly A,Atherton DJ,Griffiths WA,Orlow SJ,van Haeringen A,Ausems MG,Yang A,McKeon F,Bamshad MA,Brunner HG,Hamel BC,van Bokhoven H

更新日期：2001-02-01 00:00:00

abstract：:Linkage analysis of type 1 diabetes sib pair families (n = 334) has suggested two separate regions of human chromosome 6q are linked to disease (designated IDDM5 and IDDM8). To test if these are false positive results, all available sib pair families (n = 429) were typed using a 92% informative map of chromosome 6q an...

journal_title：Human molecular genetics

authors： Davies JL,Cucca F,Goy JV,Atta ZA,Merriman ME,Wilson A,Barnett AH,Bain SC,Todd JA

更新日期：1996-07-01 00:00:00

abstract：:Cerebral small-vessel disease is a common disorder in elderly populations; however, its molecular basis is not well understood. We recently demonstrated that mutations in the high-temperature requirement A (HTRA) serine peptidase 1 (HTRA1) gene cause a hereditary cerebral small-vessel disease, cerebral autosomal reces...

journal_title：Human molecular genetics

authors： Shiga A,Nozaki H,Yokoseki A,Nihonmatsu M,Kawata H,Kato T,Koyama A,Arima K,Ikeda M,Katada S,Toyoshima Y,Takahashi H,Tanaka A,Nakano I,Ikeuchi T,Nishizawa M,Onodera O

更新日期：2011-05-01 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：:Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Individuals with this disorder also have an increased incidence of hypertension, diabetes mellitus, and renal and cardiac anomalies. We previously identified a locu...

journal_title：Human molecular genetics

authors： Sheffield VC,Carmi R,Kwitek-Black A,Rokhlina T,Nishimura D,Duyk GM,Elbedour K,Sunden SL,Stone EM

更新日期：1994-08-01 00:00:00

abstract：:Proper splicing is often crucial for gene functioning and its disruption may be strongly deleterious. Nevertheless, even the essential for splicing canonical dinucleotides of the splice sites are often polymorphic. Here, we use data from The 1000 Genomes Project to study single-nucleotide polymorphisms (SNPs) in the c...

journal_title：Human molecular genetics

authors： Kurmangaliyev YZ,Sutormin RA,Naumenko SA,Bazykin GA,Gelfand MS

更新日期：2013-09-01 00:00:00

abstract：:Genomic imprinting is a phenomenon that causes parent-origin-specific monoallelic expression of a small subset of genes, known as imprinted genes, by parentally inherited epigenetic marks. Imprinted genes at the delta-like homolog 1 gene (Dlk1)-type III iodothyronine deiodinase gene (Dio3) imprinted domain, regulated ...

journal_title：Human molecular genetics

authors： Saito T,Hara S,Kato T,Tamano M,Muramatsu A,Asahara H,Takada S

更新日期：2018-09-15 00:00:00

abstract：:Rett syndrome (RTT) is an X-linked dominant disabling neurodevelopmental disorder caused by loss of function mutations in the MECP2 gene, located at Xq28, which encodes a multifunctional protein. MECP2 expression is regulated in a developmental stage and cell-type-specific manner. The need for tightly controlled MeCP2...

journal_title：Human molecular genetics

authors： Liu J,Francke U

更新日期：2006-06-01 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：:In humans, poor nutrition, malabsorption and variation in cobalamin (vitamin B12) metabolic genes are associated with hematological, neurological and developmental pathologies. Cobalamin is transported from blood into tissues via the transcobalamin (TC) receptor encoded by the CD320 gene. We created mice carrying a ta...

journal_title：Human molecular genetics

authors： Bernard DJ,Pangilinan FJ,Cheng J,Molloy AM,Brody LC

更新日期：2018-10-15 00:00:00

abstract：:Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder phenotypically characterized by many features of premature aging. Most cases of HGPS are due to a heterozygous silent mutation (c.1824C>T; p.Gly608Gly) that enhances the use of an internal 5' splice site (5'SS) in exon 11 of the LMNA pre-mRNA and l...

journal_title：Human molecular genetics

authors： Lopez-Mejia IC,Vautrot V,De Toledo M,Behm-Ansmant I,Bourgeois CF,Navarro CL,Osorio FG,Freije JM,Stévenin J,De Sandre-Giovannoli A,Lopez-Otin C,Lévy N,Branlant C,Tazi J

更新日期：2011-12-01 00:00:00