Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomas.

abstract：:In mammals, sperm-oocyte fusion initiates Ca(2+) oscillations leading to a series of events called oocyte activation, which is the first stage of embryo development. Ca(2+) signaling is elicited by the delivery of an oocyte-activating factor by the sperm. A sperm-specific phospholipase C (PLCZ1) has emerged as the lik...

journal_title：Human molecular genetics

authors： Escoffier J,Lee HC,Yassine S,Zouari R,Martinez G,Karaouzène T,Coutton C,Kherraf ZE,Halouani L,Triki C,Nef S,Thierry-Mieg N,Savinov SN,Fissore R,Ray PF,Arnoult C

更新日期：2016-03-01 00:00:00

abstract：:Advances in information technology (IT) hardware in the last decade have led to the advent of small connected devices broadly referred to as the Internet of Things (IoT). The IoT and its subcategory of wearable devices (wearables) both have the potential to greatly impact biomedical research. This focused review cover...

journal_title：Human molecular genetics

authors： Talboom JS,Huentelman MJ

更新日期：2018-05-01 00:00:00

abstract：:By sequencing 11,405 individual expressed sequence tags (ESTs) from a cDNA library of a human skeletal muscle, we identified 1945 individual transcripts, 725 of which showed no correspondence with known human genes. We report here the chromosomal localization of 267 of these, obtained by radiation hybrid (RH) mapping....

journal_title：Human molecular genetics

authors： Pallavicini A,Zimbello R,Tiso N,Muraro T,Rampoldi L,Bortoluzzi S,Valle G,Lanfranchi G,Danieli GA

更新日期：1997-09-01 00:00:00

abstract：:A new gene, designated Smcx, was cloned from the mouse X chromosome by its homology to the Y located gene Smcy. Using direct in situ hybridisation Smcx was mapped to the distal end of the mouse X chromosome (XF2-XF4) and its human homologue, SMCX, was mapped to proximal Xp (Xp11.1-Xp11.2). Further meiotic mapping in t...

journal_title：Human molecular genetics

authors： Agulnik AI,Mitchell MJ,Mattei MG,Borsani G,Avner PA,Lerner JL,Bishop CE

更新日期：1994-06-01 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：:The infantile neuronal ceroid lipofuscinosis (INCL), a rare (one in 100 000 births) but one of the most lethal inherited neurodegenerative storage disorders of childhood, is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. PPT1 cleaves thioester linkages in s-acylated (palmitoylate...

journal_title：Human molecular genetics

authors： Kim SJ,Zhang Z,Lee YC,Mukherjee AB

更新日期：2006-05-15 00:00:00

abstract：:A gene's transcriptional output is the combined product of two inputs: diffusible factors in the cellular milieu acting in trans, and chromatin state acting in cis. Here, we describe a strategy for dissecting the relative contribution of cis versus trans mechanisms to gene regulation. Referred to as trans complementat...

journal_title：Human molecular genetics

authors： Lee JH,Bugarija B,Millan EJ,Walton NM,Gaetz J,Fernandes CJ,Yu WH,Mekel-Bobrov N,Vallender TW,Snyder GE,Xiang AP,Lahn BT

更新日期：2009-03-01 00:00:00

abstract：:Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 repeats are a genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction with TDP-43. Given ...

journal_title：Human molecular genetics

authors： Ross OA,Rutherford NJ,Baker M,Soto-Ortolaza AI,Carrasquillo MM,DeJesus-Hernandez M,Adamson J,Li M,Volkening K,Finger E,Seeley WW,Hatanpaa KJ,Lomen-Hoerth C,Kertesz A,Bigio EH,Lippa C,Woodruff BK,Knopman DS,White CL 3r

更新日期：2011-08-15 00:00:00

abstract：:The deposition of amyloid-beta (Aβ) aggregates in the brain is a major pathological hallmark of Alzheimer's disease (AD). Aβ is generated from the cleavage of C-terminal fragments of the amyloid precursor protein (APP-CTFs) by γ-secretase, an intramembrane-cleaving protease with multiple substrates, including the Notc...

journal_title：Human molecular genetics

authors： Mosser S,Alattia JR,Dimitrov M,Matz A,Pascual J,Schneider BL,Fraering PC

更新日期：2015-01-15 00:00:00

abstract：:Prevalence of coronary heart disease (CHD), of type 2 diabetes (T2DM) and of the metabolic syndrome are in Mauritius amongst the highest in the world. As T2DM and CHD are closely associated and have both a polygenic basis, we conducted a 10 cM genome scan with 403 microsatellite markers in 99 independent families of N...

journal_title：Human molecular genetics

authors： Francke S,Manraj M,Lacquemant C,Lecoeur C,Leprêtre F,Passa P,Hebe A,Corset L,Yan SL,Lahmidi S,Jankee S,Gunness TK,Ramjuttun US,Balgobin V,Dina C,Froguel P

更新日期：2001-11-15 00:00:00

abstract：:Peak bone mass achieved in adolescence is a determinant of bone mass in later life. In order to identify genetic variants affecting bone mineral density (BMD), we performed a genome-wide association study of BMD and related traits in 1518 children from the Avon Longitudinal Study of Parents and Children (ALSPAC). We c...

journal_title：Human molecular genetics

authors： Timpson NJ,Tobias JH,Richards JB,Soranzo N,Duncan EL,Sims AM,Whittaker P,Kumanduri V,Zhai G,Glaser B,Eisman J,Jones G,Nicholson G,Prince R,Seeman E,Spector TD,Brown MA,Peltonen L,Smith GD,Deloukas P,Evans DM

更新日期：2009-04-15 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 members of the huntingtin-interacting protein-1 (HIP1) family, HIP1 and HIP1-related (HIP1r), are multi-domain proteins that interact with inositol lipids, clathrin and actin. HIP1 is over-expressed in a variety of cancers and both HIP1 and HIP1r prolong the half-life of multiple growth factor receptors. To better...

journal_title：Human molecular genetics

authors： Bradley SV,Hyun TS,Oravecz-Wilson KI,Li L,Waldorff EI,Ermilov AN,Goldstein SA,Zhang CX,Drubin DG,Varela K,Parlow A,Dlugosz AA,Ross TS

更新日期：2007-06-01 00:00:00

abstract：:The tumour suppressor gene PTEN encodes a dual-specificity phosphatase that recognizes protein substrates and phosphatidylinositol-3,4,5-triphosphate. PTEN seems to play multiple roles in tumour suppression and the blockade of phosphoinositide-3-kinase signalling is important for its growth suppressive effects, althou...

journal_title：Human molecular genetics

authors： Weng LP,Smith WM,Brown JL,Eng C

更新日期：2001-03-15 00:00:00

abstract：:Gene function in cancer can be disrupted either through genetic alterations, which directly mutate or delete genes, or epigenetic alterations, which alter the heritable state of gene expression. The latter events are mediated by formation of transcriptionally repressive chromatin states around gene transcription start...

journal_title：Human molecular genetics

authors： Baylin SB,Esteller M,Rountree MR,Bachman KE,Schuebel K,Herman JG

更新日期：2001-04-01 00:00:00

abstract：:The mutation causing myotonic dystrophy (DM) has recently been identified as an unstable CTG trinucleotide repeat located in the 3' untranslated region of a gene encoding for a protein with putative serine-threonine protein kinase activity. In this report we present the genomic sequences of the human and murine DM kin...

journal_title：Human molecular genetics

authors： Mahadevan MS,Amemiya C,Jansen G,Sabourin L,Baird S,Neville CE,Wormskamp N,Segers B,Batzer M,Lamerdin J

更新日期：1993-03-01 00:00:00

abstract：:We describe a new Type II congenital disorder of glycosylation (CDG-II) caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8. The patient has severe psychomotor retardation, seizures, failure to thrive and intolerance to wheat and dairy products. Analysis of serum transferrin and total serum ...

journal_title：Human molecular genetics

authors： Kranz C,Ng BG,Sun L,Sharma V,Eklund EA,Miura Y,Ungar D,Lupashin V,Winkel RD,Cipollo JF,Costello CE,Loh E,Hong W,Freeze HH

更新日期：2007-04-01 00:00:00

abstract：:Recent studies with tiling arrays have revealed more genomic transcription than previously anticipated. Whole new groups of non-coding transcripts (NCTs) have been detected. Some of these NCTs, including miRNAs, can regulate gene expression. To date, most known NCTs studied have been relatively short, but several impo...

journal_title：Human molecular genetics

authors： Perez DS,Hoage TR,Pritchett JR,Ducharme-Smith AL,Halling ML,Ganapathiraju SC,Streng PS,Smith DI

更新日期：2008-03-01 00:00:00

abstract：:An intronic GGGGCC (G4C2) hexanucleotide repeat expansion inC9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Repeat-associated non-AUG (RAN) translation of G4C2 RNA can result in five different dipeptide repeat proteins (DPR: poly GA, poly GP, poly GR, ...

journal_title：Human molecular genetics

authors： Lee YB,Baskaran P,Gomez-Deza J,Chen HJ,Nishimura AL,Smith BN,Troakes C,Adachi Y,Stepto A,Petrucelli L,Gallo JM,Hirth F,Rogelj B,Guthrie S,Shaw CE

更新日期：2017-12-15 00:00:00

abstract：:Ubiquinone (UQ), a.k.a. coenzyme Q, is a redox-active lipid that participates in several cellular processes, in particular mitochondrial electron transport. Primary UQ deficiency is a rare but severely debilitating condition. Mclk1 (a.k.a. Coq7) encodes a conserved mitochondrial enzyme that is necessary for UQ biosynt...

journal_title：Human molecular genetics

authors： Wang Y,Hekimi S

更新日期：2013-12-01 00:00:00

abstract：:The MITF/TFE subfamily of basic helix-loop-helix leucine-zipper (bHLH-LZ) transcription factors consists of four closely related members, TFE3, TFEB, TFEC and MITF, which can form both homo- and heterodimers. Previously, we demonstrated that in t(X;1)(p11;q21)-positive renal cell carcinomas (RCCs), the TFE3 gene on th...

journal_title：Human molecular genetics

authors： Kuiper RP,Schepens M,Thijssen J,van Asseldonk M,van den Berg E,Bridge J,Schuuring E,Schoenmakers EF,van Kessel AG

更新日期：2003-07-15 00:00:00

abstract：:We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with an almost equal number of maternal MI and MII errors. The latter ...

journal_title：Human molecular genetics

authors： Bugge M,Collins A,Hertz JM,Eiberg H,Lundsteen C,Brandt CA,Bak M,Hansen C,Delozier CD,Lespinasse J,Tranebjaerg L,Hahnemann JM,Rasmussen K,Bruun-Petersen G,Duprez L,Tommerup N,Petersen MB

更新日期：2007-08-15 00:00:00

abstract：:Down syndrome (DS) is the most common genetic cause of mental retardation and affects many aspects of brain development. DS individuals exhibit an overall reduction in brain size with a disproportionately greater reduction in cerebellar volume. The Ts65Dn mouse is segmentally trisomic for the distal 12-15 Mb of mouse ...

journal_title：Human molecular genetics

authors： Baxter LL,Moran TH,Richtsmeier JT,Troncoso J,Reeves RH

更新日期：2000-01-22 00:00:00

abstract：:HTRA2-BETA1 is an SR-like protein that regulates alternative splice site selection in a concentration-dependent manner. Its proper concentration is important as several pathological states are associated with its change. We investigated the mechanism that controls the cellular HTRA2-BETA1 concentration and found it ut...

journal_title：Human molecular genetics

authors： Stoilov P,Daoud R,Nayler O,Stamm S

更新日期：2004-03-01 00:00:00

abstract：:Lysosomal neuraminidase is the key enzyme for the intralysosomal catabolism of sialylated glycoconjugates and is deficient in two neurodegenerative lysosomal disorders, sialidosis and galactosialidosis. Here we report the identification of eight novel mutations in the neuraminidase gene of 11 sialidosis patients with ...

journal_title：Human molecular genetics

authors： Bonten EJ,Arts WF,Beck M,Covanis A,Donati MA,Parini R,Zammarchi E,d'Azzo A

更新日期：2000-11-01 00:00:00

abstract：:The identification of multiple signals at individual loci could explain additional phenotypic variance ('missing heritability') of common traits, and help identify causal genes. We examined gene expression levels as a model trait because of the large number of strong genetic effects acting in cis. Using expression pro...

journal_title：Human molecular genetics

authors： Wood AR,Hernandez DG,Nalls MA,Yaghootkar H,Gibbs JR,Harries LW,Chong S,Moore M,Weedon MN,Guralnik JM,Bandinelli S,Murray A,Ferrucci L,Singleton AB,Melzer D,Frayling TM

更新日期：2011-10-15 00:00:00

abstract：:The von Hippel-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutations in a tumor suppressor gene on human chromosome 3p25. It is characterized clinically by vascular tumors including benign hemangioblastomas of the cerebellum, spine, brain stem and retina. Clear-cell ren...

journal_title：Human molecular genetics

authors： Friedrich CA

更新日期：2001-04-01 00:00:00

abstract：:Loss-of-function mutations of the X-chromosome gene UPF3B cause male neurodevelopmental disorders (NDDs) via largely unknown mechanisms. We investigated initially by interrogating a novel synonymous UPF3B variant in a male with absent speech. In silico and functional studies using cell lines derived from this individu...

journal_title：Human molecular genetics

authors： Domingo D,Nawaz U,Corbett M,Espinoza JL,Tatton-Brown K,Coman D,Wilkinson MF,Gecz J,Jolly LA

更新日期：2020-08-29 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：:Slow channel congenital myasthenic syndrome (SCCMS) is a disorder of the neuromuscular synapse caused by dominantly inherited missense mutations in genes that encode the muscle acetylcholine receptor (AChR) subunits. Here we investigate the potential of post-transcriptional gene silencing using RNA interference (RNAi)...

journal_title：Human molecular genetics

authors： Abdelgany A,Wood M,Beeson D

更新日期：2003-10-15 00:00:00