Interaction of presenilins with FKBP38 promotes apoptosis by reducing mitochondrial Bcl-2.

abstract：:Employing the mouse homologue of the human choroideremia cDNA as a probe, we have identified a homologous human gene. The consensus cDNA of this gene, designated human choroideremia-like (hCHML) gene, encompasses an open reading frame of 1968 base pairs. The deduced polypeptide of hCHML displays several regions of hom...

journal_title：Human molecular genetics

authors： Cremers FP,Molloy CM,van de Pol DJ,van den Hurk JA,Bach I,Geurts van Kessel AH,Ropers HH

更新日期：1992-05-01 00:00:00

abstract：:CHD7 mutations are implicated in a majority of cases of the congenital disorder, CHARGE syndrome. CHARGE, an autosomal dominant syndrome, is known to affect multiple tissues including eye, heart, ear, craniofacial nerves and skeleton and genital organs. Using a morpholino-antisense-oligonucleotide-based zebrafish mode...

journal_title：Human molecular genetics

authors： Asad Z,Pandey A,Babu A,Sun Y,Shevade K,Kapoor S,Ullah I,Ranjan S,Scaria V,Bajpai R,Sachidanandan C

更新日期：2016-08-15 00:00:00

abstract：:Genome-wide association studies of colorectal cancer (CRC) have identified a number of common variants associated with modest risk, including rs3802842 at chromosome 11q23.1. Several genes map to this region but rs3802842 does not map to any known transcribed or regulatory sequences. We reasoned, therefore, that rs380...

journal_title：Human molecular genetics

authors： Biancolella M,Fortini BK,Tring S,Plummer SJ,Mendoza-Fandino GA,Hartiala J,Hitchler MJ,Yan C,Schumacher FR,Conti DV,Edlund CK,Noushmehr H,Coetzee SG,Bresalier RS,Ahnen DJ,Barry EL,Berman BP,Rice JC,Coetzee GA,Casey G

更新日期：2014-04-15 00:00:00

abstract：:The defective gene responsible for the recessively inherited immunodeficiency X-linked agammaglobulinemia (XLA) has been shown to encode a cytoplasmic protein tyrosine kinase of the Src family designated Btk (Bruton's tyrosine kinase). To facilitate the search for germline mutations of the Btk gene, we have characteri...

journal_title：Human molecular genetics

authors： Hagemann TL,Chen Y,Rosen FS,Kwan SP

更新日期：1994-10-01 00:00:00

abstract：:Synapsin I (SynI) is a synaptic vesicle (SV) phosphoprotein playing multiple roles in synaptic transmission and plasticity by differentially affecting crucial steps of SV trafficking in excitatory and inhibitory synapses. SynI knockout (KO) mice are epileptic, and nonsense and missense mutations in the human SYN1 gene...

journal_title：Human molecular genetics

authors： Lignani G,Raimondi A,Ferrea E,Rocchi A,Paonessa F,Cesca F,Orlando M,Tkatch T,Valtorta F,Cossette P,Baldelli P,Benfenati F

更新日期：2013-06-01 00:00:00

abstract：:Sonic Hedgehog (SHH) is one of the most intensively studied genes in developmental biology. It is a highly conserved gene, found in species as diverse as arthropods and mammals. The mammalian SHH encodes a signaling molecule that plays a central role in developmental patterning, especially of the nervous system and th...

journal_title：Human molecular genetics

authors： Dorus S,Anderson JR,Vallender EJ,Gilbert SL,Zhang L,Chemnick LG,Ryder OA,Li W,Lahn BT

更新日期：2006-07-01 00:00:00

abstract：:Junctional epidermolysis bullosa inversa is an autosomal recessive blistering skin disease with an ultrastructural hemidesmosome defect similar to that of the Herlitz disease, yet with a non-lethal and different course of the disease. Its delineation is based on five geographically associated Norwegian families where ...

journal_title：Human molecular genetics

authors： Gedde-Dahl T Jr,Dupuy BM,Jonassen R,Winberg JO,Anton-Lamprecht I,Olaisen B

更新日期：1994-08-01 00:00:00

abstract：:To further identify novel susceptibility loci of nasopharyngeal carcinoma (NPC), we here extended our previous genome-wide association study (GWAS) by boosting statistical power with larger sample size and validating more SNPs in the ranking list based on the GWAS P-values. The discovery stage consisting of 463,250 SN...

journal_title：Human molecular genetics

authors： Cui Q,Feng QS,Mo HY,Sun J,Xia YF,Zhang H,Foo JN,Guo YM,Chen LZ,Li M,Liu WS,Xu M,Zhou G,He F,Yu X,Jia WH,Liu J,Zeng YX,Bei JX

更新日期：2016-08-15 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：:Serum total immunoglobulin E (IgE) is a critical intermediate phenotype of allergic diseases. Although total IgE exhibits sexual dimorphism in humans (with males demonstrating higher IgE than females), the molecular basis of this difference is unknown. A genome-wide scan of 380 short-tandem repeat (STR) markers was pe...

journal_title：Human molecular genetics

authors： Raby BA,Soto-Quiros ME,Avila L,Lake SL,Murphy A,Liang C,Fournier E,Spesny M,Sylvia JS,Verner A,Hudson TJ,Klanderman BJ,Freimer NB,Silverman EK,Celedón JC

更新日期：2007-02-01 00:00:00

abstract：:Huntington's disease (HD) is caused by a polyglutamine expansion mutation in the huntingtin protein that confers a toxic gain-of-function and causes the protein to become aggregate-prone. Aggregate-prone proteins are cleared by macroautophagy, and upregulating this process by rapamycin, which inhibits the mammalian ta...

journal_title：Human molecular genetics

authors： Sarkar S,Krishna G,Imarisio S,Saiki S,O'Kane CJ,Rubinsztein DC

更新日期：2008-01-15 00:00:00

abstract：:A long-term goal of modeling Huntington's disease (HD) is to recapitulate the cardinal features of the disease in mice that express both mutant and wild-type (WT) huntingtin (Htt), as HD commonly manifests as a heterozygous condition in humans, and loss of WT Htt is associated with loss-of-function. In a new heterozyg...

journal_title：Human molecular genetics

authors： Smith GA,Rocha EM,McLean JR,Hayes MA,Izen SC,Isacson O,Hallett PJ

更新日期：2014-09-01 00:00:00

abstract：:Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), located distal to the 22q11.21 DiGeorge/velocardiofacial microdeletion regi...

journal_title：Human molecular genetics

authors： Coppinger J,McDonald-McGinn D,Zackai E,Shane K,Atkin JF,Asamoah A,Leland R,Weaver DD,Lansky-Shafer S,Schmidt K,Feldman H,Cohen W,Phalin J,Powell B,Ballif BC,Theisen A,Geiger E,Haldeman-Englert C,Shaikh TH,Saitta S,

更新日期：2009-04-15 00:00:00

abstract：:PRESENILIN1 (PSEN1) is the major locus for mutations causing familial Alzheimer's disease (FAD) and is also mutated in Pick disease of brain, familial acne inversa and dilated cardiomyopathy. It is a critical facilitator of Notch signalling and many other signalling pathways and protein cleavage events including produ...

journal_title：Human molecular genetics

authors： Newman M,Wilson L,Verdile G,Lim A,Khan I,Moussavi Nik SH,Pursglove S,Chapman G,Martins RN,Lardelli M

更新日期：2014-02-01 00:00:00

abstract：:Single-nucleotide polymorphism (SNP) tagging is widely used as a way of saving genotyping costs in association studies. A number of different tagging methods have been developed to reduce the number of markers to be genotyped while maintaining power for detecting effects on non-assayed SNPs. How the different methods ...

journal_title：Human molecular genetics

authors： Ke X,Miretti MM,Broxholme J,Hunt S,Beck S,Bentley DR,Deloukas P,Cardon LR

更新日期：2005-09-15 00:00:00

abstract：:Rett syndrome (RTT), an X-linked postnatal disorder, results from mutations in Methyl CpG-binding protein 2 (MECP2). Survival and breathing in Mecp2(NULL/Y) animals are improved by an N-terminal tripeptide of insulin-like growth factor I (IGF-I) treatment. We determined that Mecp2(NULL/Y) animals also have a metabolic...

journal_title：Human molecular genetics

authors： Pitcher MR,Ward CS,Arvide EM,Chapleau CA,Pozzo-Miller L,Hoeflich A,Sivaramakrishnan M,Saenger S,Metzger F,Neul JL

更新日期：2013-07-01 00:00:00

abstract：:The biogenesis of the mitochondrial inner membrane is dependent on two distinct 70 kDa protein complexes. TIMM8a partners with TIMM13 in the mitochondrial intermembrane space to form a 70 kDa complex and facilitates the import of the inner membrane substrate TIMM23. We have identified a new class of substrates, citrin...

journal_title：Human molecular genetics

authors： Roesch K,Hynds PJ,Varga R,Tranebjaerg L,Koehler CM

更新日期：2004-09-15 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：:Autoimmune thyroid disease (AITD), including Graves' disease (GD) and Hashimoto's thyroiditis (HT), is caused by multiple genetic and environmental factors. The clinical and immunological features of GD and HT are distinct; however, there are multiplex families with both GD and HT, and cases in which GD evolves into H...

journal_title：Human molecular genetics

authors： Sakai K,Shirasawa S,Ishikawa N,Ito K,Tamai H,Kuma K,Akamizu T,Tanimura M,Furugaki K,Yamamoto K,Sasazuki T

更新日期：2001-06-15 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：:Exon shuffling is thought to be an important mechanism for evolution of new genes. Here we show that the mouse neurological mutation flailer (flr) expresses a novel gene that combines the promoter and first two exons of guanine nucleotide binding protein beta 5 (Gnb5) with the C-terminal exons of the closely linked My...

journal_title：Human molecular genetics

authors： Jones JM,Huang JD,Mermall V,Hamilton BA,Mooseker MS,Escayg A,Copeland NG,Jenkins NA,Meisler MH

更新日期：2000-03-22 00:00:00

abstract：:Epilepsy, deafness, onychodystrophy, osteodystrophy and intellectual disability are associated with a spectrum of mutations of human TBC1D24. The mechanisms underlying TBC1D24-associated disorders and the functions of TBC1D24 are not well understood. Using CRISPR-Cas9 genome editing, we engineered a mouse with a prema...

journal_title：Human molecular genetics

authors： Tona R,Chen W,Nakano Y,Reyes LD,Petralia RS,Wang YX,Starost MF,Wafa TT,Morell RJ,Cravedi KD,du Hoffmann J,Miyoshi T,Munasinghe JP,Fitzgerald TS,Chudasama Y,Omori K,Pierpaoli C,Banfi B,Dong L,Belyantseva IA,Friedma

更新日期：2019-05-01 00:00:00

abstract：:Missense mutations in the gene, MAP3K1, are a common cause of 46,XY gonadal dysgenesis, accounting for 15-20% of cases [Ostrer, 2014, Disorders of sex development (DSDs): an update. J. Clin. Endocrinol. Metab., 99, 1503-1509]. Functional studies demonstrated that all of these mutations cause a protein gain-of-function...

journal_title：Human molecular genetics

authors： Chamberlin A,Huether R,Machado AZ,Groden M,Liu HM,Upadhyay K,O V,Gomes NL,Lerario AM,Nishi MY,Costa EMF,Mendonca B,Domenice S,Velasco J,Loke J,Ostrer H

更新日期：2019-05-15 00:00:00

abstract：:Members of the peroxisome proliferator-activated receptor gamma coactivator (PGC) family are potent inducers of mitochondrial biogenesis. We have tested the potential effect of increased mitochondrial biogenesis in cells derived from patients harboring oxidative phosphorylation defects due to either nuclear or mitocho...

journal_title：Human molecular genetics

authors： Srivastava S,Diaz F,Iommarini L,Aure K,Lombes A,Moraes CT

更新日期：2009-05-15 00:00:00

abstract：:Human GM1-gangliosidosis is caused by a genetic deficiency of lysosomal acid beta-galactosidase (beta-gal). The disease manifests itself either as an infantile, juvenile or adult form and is primarily a neurological disorder with progressive brain dysfunction. A mouse model lacking a functional beta-gal gene has been ...

journal_title：Human molecular genetics

authors： Hahn CN,del Pilar Martin M,Schröder M,Vanier MT,Hara Y,Suzuki K,Suzuki K,d'Azzo A

更新日期：1997-02-01 00:00:00

abstract：:The intraflagellar transport (IFT) machinery containing the IFT-A and IFT-B complexes mediates ciliary protein trafficking. Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including cranioectodermal dysp...

journal_title：Human molecular genetics

authors： Takahara M,Katoh Y,Nakamura K,Hirano T,Sugawa M,Tsurumi Y,Nakayama K

更新日期：2018-02-01 00:00:00

abstract：:Neonatal dried blood spots (NDBS) are a widely banked sample source that enables retrospective investigation into early life molecular events. Here, we performed low-pass whole genome bisulfite sequencing (WGBS) of 86 NDBS DNA to examine early life Down syndrome (DS) DNA methylation profiles. DS represents an example ...

journal_title：Human molecular genetics

authors： Laufer BI,Hwang H,Jianu JM,Mordaunt CE,Korf IF,Hertz-Picciotto I,LaSalle JM

更新日期：2021-01-06 00:00:00

abstract：:Hirschsprung disease (HSCR) is a frequent neurocristopathy characterized by the absence of submucosal and myenteric plexuses in a variable length of the gastrointestinal tract. Pedigrees and segregation analyses suggested the involvement of one or several dominant genes with low penetrance in HSCR. Considering that RE...

journal_title：Human molecular genetics

authors： Doray B,Salomon R,Amiel J,Pelet A,Touraine R,Billaud M,Attié T,Bachy B,Munnich A,Lyonnet S

更新日期：1998-09-01 00:00:00

abstract：:Mutations in S-phase cyclin A-associated protein in the endoplasmic reticulum (SCAPER) cause a recessively inherited multisystemic disorder whose main features are retinal degeneration and intellectual disability. SCAPER, originally identified as a cell cycle regulator, was also suggested to be a ciliary protein. Beca...

journal_title：Human molecular genetics

authors： Tatour Y,Bar-Joseph H,Shalgi R,Ben-Yosef T

更新日期：2020-08-03 00:00:00

abstract：:Understanding mediation is useful for identifying intermediates lying between an exposure and an outcome which, when intervened upon, will block (some or all of) the causal pathway between the exposure and outcome. Mediation approaches used in conventional epidemiology have been adapted to understanding the role of mo...

journal_title：Human molecular genetics

authors： Richmond RC,Hemani G,Tilling K,Davey Smith G,Relton CL

更新日期：2016-10-01 00:00:00