Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.

abstract：:ICF syndrome has been described as the association of variable immunodeficiency, facial anomalies and centromeric heterochromatin instability. Since the chromosome rearrangements seen in cells of ICF patients are reminiscent of the chromosomal changes induced by the undermethylating agent 5-azacytidine in the late S-p...

journal_title：Human molecular genetics

authors： Jeanpierre M,Turleau C,Aurias A,Prieur M,Ledeist F,Fischer A,Viegas-Pequignot E

更新日期：1993-06-01 00:00:00

abstract：:Polyglutamine expansion in certain proteins causes neurodegeneration in inherited disorders such as Huntington disease and X-linked spinobulbar muscular atrophy. Polyglutamine tracts promote protein aggregation in vitro and in vivo with a strict length-dependence that strongly implicates alternative protein folding an...

journal_title：Human molecular genetics

authors： Desai UA,Pallos J,Ma AA,Stockwell BR,Thompson LM,Marsh JL,Diamond MI

更新日期：2006-07-01 00:00:00

abstract：:F1Fo-ATP synthase is a key enzyme of mitochondrial energy provision producing most of cellular ATP. So far, mitochondrial diseases caused by isolated disorders of the ATP synthase have been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ...

journal_title：Human molecular genetics

authors： Mayr JA,Havlícková V,Zimmermann F,Magler I,Kaplanová V,Jesina P,Pecinová A,Nusková H,Koch J,Sperl W,Houstek J

更新日期：2010-09-01 00:00:00

abstract：:Even though autoimmune diseases are heterogeneous, believed to result from the interaction between genetic and environmental components, patients with these disorders exhibit reproducible patterns of gene expression in their peripheral blood mononuclear cells. A portion of this gene expression profile is a property of...

journal_title：Human molecular genetics

authors： Liu Z,Maas K,Aune TM

更新日期：2006-02-01 00:00:00

abstract：:Apolipoprotein-E (apoE) protects against coronary artery disease via hepatic removal of atherogenic remnant lipoproteins, sequestration of cholesterol from vessel walls and local anti-oxidant, anti-platelet and anti-inflammatory actions. ApoE gene transfer may thus ameliorate a hyperlipidaemic profile and have benefic...

journal_title：Human molecular genetics

authors： Athanasopoulos T,Owen JS,Hassall D,Dunckley MG,Drew J,Goodman J,Tagalakis AD,Riddell DR,Dickson G

更新日期：2000-10-12 00:00:00

abstract：:Splicing regulation is an important step of post-transcriptional gene regulation. It is a highly dynamic process orchestrated by RNA-binding proteins (RBPs). RBP dysfunction and global splicing dysregulation have been implicated in many human diseases, but the in vivo functions of most RBPs and the splicing outcome up...

journal_title：Human molecular genetics

authors： Tan Q,Yalamanchili HK,Park J,De Maio A,Lu HC,Wan YW,White JJ,Bondar VV,Sayegh LS,Liu X,Gao Y,Sillitoe RV,Orr HT,Liu Z,Zoghbi HY

更新日期：2016-12-01 00:00:00

abstract：:To investigate the putative role of BRCA1, a gene involved in hereditary breast and ovarian cancer, in sporadic ovarian tumors among Japanese women, we examined 76 unselected primary ovarian cancers for mutations in the coding region of BRCA1 using the single-strand conformation polymorphism technique. Although no som...

journal_title：Human molecular genetics

authors： Matsushima M,Kobayashi K,Emi M,Saito H,Saito J,Suzumori K,Nakamura Y

更新日期：1995-10-01 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：:We have recently described the identification of a second IDS locus (IDS-2) located within 90 kb telomeric of the IDS gene (Bondeson et al. submitted). Here, we show that this region is involved in a recombination event with the IDS gene in about 13% of patients with the Hunter syndrome. Analysis of the resulting rear...

journal_title：Human molecular genetics

authors： Bondeson ML,Dahl N,Malmgren H,Kleijer WJ,Tönnesen T,Carlberg BM,Pettersson U

更新日期：1995-04-01 00:00:00

abstract：:Linkage, association and postmortem studies have implicated regulator of G-protein signaling 4 (RGS4), which negatively modulates signal transduction at G-protein-coupled receptors, as a candidate schizophrenia susceptibility gene. We compared RGS4 mRNA expression in the dorsolateral prefrontal cortex (DLPFC), between...

journal_title：Human molecular genetics

authors： Lipska BK,Mitkus S,Caruso M,Hyde TM,Chen J,Vakkalanka R,Straub RE,Weinberger DR,Kleinman JE

更新日期：2006-09-15 00:00:00

abstract：:We studied a large Danish family of seven generations in which autosomal dominant retinitis pigmentosa (adRP), a heterogeneous genetic form of retinal dystrophy, was segregating. After linkage had been excluded to all known adRP loci on chromosomes 3q, 6p, 7p, 7q, 8q, 17p, 17q and 19q, a genome screening was performed...

journal_title：Human molecular genetics

authors： Xu SY,Schwartz M,Rosenberg T,Gal A

更新日期：1996-08-01 00:00:00

abstract：:Glycosylation with O-linked β-N-acetylglucosamine (O-GlcNAc) is one of the protein glycosylations affecting various intracellular events. However, the role of O-GlcNAcylation in neurodegenerative diseases such as Alzheimer's disease (AD) is poorly understood. Mitochondrial adenosine 5'-triphosphate (ATP) synthase is a...

journal_title：Human molecular genetics

authors： Cha MY,Cho HJ,Kim C,Jung YO,Kang MJ,Murray ME,Hong HS,Choi YJ,Choi H,Kim DK,Choi H,Kim J,Dickson DW,Song HK,Cho JW,Yi EC,Kim J,Jin SM,Mook-Jung I

更新日期：2015-11-15 00:00:00

abstract：:To maintain the female reproductive lifespan, the majority of ovarian primordial follicles are preserved in a quiescent state in order to provide ova for later reproductive life. However, the molecular mechanism that maintains the long quiescence of primordial follicles is poorly understood. Here we provide genetic ev...

journal_title：Human molecular genetics

authors： Adhikari D,Zheng W,Shen Y,Gorre N,Hämäläinen T,Cooney AJ,Huhtaniemi I,Lan ZJ,Liu K

更新日期：2010-02-01 00:00:00

abstract：:Superovulation or ovarian stimulation is currently an indispensable assisted reproductive technology (ART) for human subfertility/infertility treatment. Recently, increased frequencies of imprinting disorders have been correlated with ARTs. Significantly, for Angelman and Beckwith-Wiedemann Syndromes, patients have be...

journal_title：Human molecular genetics

authors： Market-Velker BA,Zhang L,Magri LS,Bonvissuto AC,Mann MR

更新日期：2010-01-01 00:00:00

abstract：:Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are two human autosomal dominant skeletal dysplasias characterized by variable short stature, joint laxity and early-onset degenerative joint disease. Both disorders can result from mut-ations in the gene for cartilage oligomeric matrix protein (COMP...

journal_title：Human molecular genetics

authors： Délot E,King LM,Briggs MD,Wilcox WR,Cohn DH

更新日期：1999-01-01 00:00:00

abstract：:Both genetic and environmental factors contribute to the development of intellectual disability (ID). Previously, we identified a promoter variant (-113C>A) in PLP2 (proteolipid protein 2) that results in an ∼4-fold reduction of transcript and protein and is overly represented in males with X-linked ID (XLID). The fun...

journal_title：Human molecular genetics

authors： Zhang L,Wang T,Valle D

更新日期：2015-12-20 00:00:00

abstract：:Oculodentodigital syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an i...

journal_title：Human molecular genetics

authors： Gladwin A,Donnai D,Metcalfe K,Schrander-Stumpel C,Brueton L,Verloes A,Aylsworth A,Toriello H,Winter R,Dixon M

更新日期：1997-01-01 00:00:00

abstract：:Determining the full complement of protein-coding genes is a key goal of genome annotation. The most powerful approach for confirming protein-coding potential is the detection of cellular protein expression through peptide mass spectrometry (MS) experiments. Here, we mapped peptides detected in seven large-scale prote...

journal_title：Human molecular genetics

authors： Ezkurdia I,Juan D,Rodriguez JM,Frankish A,Diekhans M,Harrow J,Vazquez J,Valencia A,Tress ML

更新日期：2014-11-15 00:00:00

abstract：:Galphaq, encoded by the human GNAQ gene, is an effector subunit of the Gq heterotrimeric G-protein and the convergence point for signaling of multiple Gq-coupled neurohormonal receptors. To identify naturally occurring mutations that could modify GNAQ transcription, we examined genomic DNA isolated from 355 normal sub...

journal_title：Human molecular genetics

authors： Liggett SB,Kelly RJ,Parekh RR,Matkovich SJ,Benner BJ,Hahn HS,Syed FM,Galvez AS,Case KL,McGuire N,Odley AM,Sparks L,Kardia SL,Dorn GW 2nd

更新日期：2007-11-15 00:00:00

abstract：:Parental genetic relatedness may lead to adverse health and fitness outcomes in the offspring. However, the degree to which it affects human delivery timing is unknown. We use genotype data from ≃25 000 parent-offspring trios from the Norwegian Mother, Father and Child Cohort Study to optimize runs of homozygosity (RO...

journal_title：Human molecular genetics

authors： Sole-Navais P,Bacelis J,Helgeland Ø,Modzelewska D,Vaudel M,Flatley C,Andreassen O,Njølstad PR,Muglia LJ,Johansson S,Zhang G,Jacobsson B

更新日期：2020-12-08 00:00:00

abstract：:Meiotic crossovers in the human genome cluster into highly localized hotspots identifiable indirectly from patterns of DNA diversity and directly by high-resolution sperm typing. Little is known about factors that control hotspot activity and the apparently rapid turnover of hotspots during recent evolution. Clues can...

journal_title：Human molecular genetics

authors： Neumann R,Jeffreys AJ

更新日期：2006-05-01 00:00:00

abstract：:X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disorder with impaired very long-chain fatty acid (VLCFA) metabolism. The disease-associated ABCD1 (ALD) gene encodes a peroxisomal membrane protein, which belongs to the superfamily of ATP-binding cassette transporters. Several treatment regimes have...

journal_title：Human molecular genetics

authors： Weinhofer I,Forss-Petter S,Zigman M,Berger J

更新日期：2002-10-15 00:00:00

abstract：:The comparison of several statistical methods currently used for detection of differentially expressed genes was attempted both by a simulation approach and by the analysis of data sets of human expressed sequence tags, obtained from UniGene. In the simulated mixed case, mimicking a situation close to reality, the gen...

journal_title：Human molecular genetics

authors： Romualdi C,Bortoluzzi S,Danieli GA

更新日期：2001-09-15 00:00:00

abstract：:Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G-->A nucleotide change. The mutation results in substitution of a glutamic acid for a g...

journal_title：Human molecular genetics

authors： Renieri A,Seri M,Myers JC,Pihlajaniemi T,Massella L,Rizzoni G,De Marchi M

更新日期：1992-05-01 00:00:00

abstract：:The human chr15q11-q13 imprinted cluster is linked to several disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes. Recently, disease modeling approaches based on induced pluripotent stem cells (iPSCs) have been used to study these syndromes. A concern regarding the use of these cells for imprinted dise...

journal_title：Human molecular genetics

authors： Pólvora-Brandão D,Joaquim M,Godinho I,Aprile D,Álvaro AR,Onofre I,Raposo AC,Pereira de Almeida L,Duarte ST,da Rocha ST

更新日期：2018-12-01 00:00:00

abstract：:The widespread use of persistent organic polybrominated diphenyl ethers (PBDEs) as commercial flame retardants has raised concern about potential long-lived effects on human health. Epigenetic mechanisms, such as DNA methylation, are responsive to environmental influences and have long-lasting consequences. Autism spe...

journal_title：Human molecular genetics

authors： Woods R,Vallero RO,Golub MS,Suarez JK,Ta TA,Yasui DH,Chi LH,Kostyniak PJ,Pessah IN,Berman RF,LaSalle JM

更新日期：2012-06-01 00:00:00

abstract：:Lipoprotein lipase (LPL) is a 448-amino-acid head-to-tail dimeric enzyme that hydrolyzes triglycerides within capillaries. LPL is secreted by parenchymal cells into the interstitial spaces; it then binds to GPIHBP1 (glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1) on the basolateral fa...

journal_title：Human molecular genetics

authors： Gin P,Goulbourne CN,Adeyo O,Beigneux AP,Davies BS,Tat S,Voss CV,Bensadoun A,Fong LG,Young SG

更新日期：2012-07-01 00:00:00

abstract：:Lipocalins are carrier proteins for hydrophobic molecules in many biological fluids. In the oral sphere (nasal mucus, saliva, tears), they have an environmental biosensor function and are involved in the detection of odours and pheromones. Herein, we report the first identification of human lipocalins involved in odor...

journal_title：Human molecular genetics

authors： Lacazette E,Gachon AM,Pitiot G

更新日期：2000-01-22 00:00:00

abstract：:X-linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of MTM1, which encodes the phosphoinositide lipid phosphatase, myotubularin. The Mtm1 knockout (KO) mouse has a severe phenotype and its short lifespan (8 weeks) makes it a challenge to use as a model in the testing of ...

journal_title：Human molecular genetics

authors： Pierson CR,Dulin-Smith AN,Durban AN,Marshall ML,Marshall JT,Snyder AD,Naiyer N,Gladman JT,Chandler DS,Lawlor MW,Buj-Bello A,Dowling JJ,Beggs AH

更新日期：2012-02-15 00:00:00

abstract：:Although studies over the last decades have firmly connected a number of genes and molecular pathways to aging, the aging process as a whole still remains poorly understood. To gain novel insights into the mechanisms underlying aging, instead of considering aging genes individually, we studied their characteristics at...

journal_title：Human molecular genetics

authors： Zhang Q,Nogales-Cadenas R,Lin JR,Zhang W,Cai Y,Vijg J,Zhang ZD

更新日期：2016-07-15 00:00:00