Tsc/mTORC1 signaling in oocytes governs the quiescence and activation of primordial follicles.

abstract：:In studies of genomic imprinting in the Prader-Willi/Angelman domain, an agouti coat color cassette was inserted into the downstream open reading frame (ORF) of the imprinted bicistronic Snurf-Snrpn locus in the mouse. The fusion gene was maternally silenced, as is Snurf-Snrpn, and produced a tan abdomen only when inh...

journal_title：Human molecular genetics

authors： Tsai TF,Chen KS,Weber JS,Justice MJ,Beaudet AL

更新日期：2002-07-01 00:00:00

abstract：:Circletail is one of only two mouse mutants that exhibit the most severe form of neural tube defect (NTD), termed craniorachischisis. In this disorder, almost the entire brain and spinal cord is affected, owing to a failure to initiate neural tube closure. Craniorachischisis is a significant cause of lethality in huma...

journal_title：Human molecular genetics

authors： Murdoch JN,Henderson DJ,Doudney K,Gaston-Massuet C,Phillips HM,Paternotte C,Arkell R,Stanier P,Copp AJ

更新日期：2003-01-15 00:00:00

abstract：:Gaucher disease, a prevalent lysosomal storage disease (LSD), is caused by insufficient activity of acid β-glucosidase (GCase) and the resultant glucosylceramide (GC)/glucosylsphingosine (GS) accumulation in visceral organs (Type 1) and the central nervous system (Types 2 and 3). Recent clinical and genetic studies im...

journal_title：Human molecular genetics

authors： Xu YH,Xu K,Sun Y,Liou B,Quinn B,Li RH,Xue L,Zhang W,Setchell KD,Witte D,Grabowski GA

更新日期：2014-08-01 00:00:00

abstract：:Mutations in MECP2 cause the neurodevelopmental disorder Rett syndrome (RTT OMIM 312750). Alternative inclusion of MECP2/Mecp2 exon 1 with exons 3 and 4 encodes MeCP2-e1 or MeCP2-e2 protein isoforms with unique amino termini. While most MECP2 mutations are located in exons 3 and 4 thus affecting both isoforms, MECP2 e...

journal_title：Human molecular genetics

authors： Yasui DH,Gonzales ML,Aflatooni JO,Crary FK,Hu DJ,Gavino BJ,Golub MS,Vincent JB,Carolyn Schanen N,Olson CO,Rastegar M,Lasalle JM

更新日期：2014-05-01 00:00:00

abstract：:The ε4 allele of the APOE gene encoding apolipoprotein E (apoE) is a strong genetic risk factor for aging-related cognitive decline as well as late-onset Alzheimer's disease (AD) compared to the common ε3 allele. In the central nervous system, apoE is produced primarily by astrocytes and functions in transporting lipi...

journal_title：Human molecular genetics

authors： Zhao J,Davis MD,Martens YA,Shinohara M,Graff-Radford NR,Younkin SG,Wszolek ZK,Kanekiyo T,Bu G

更新日期：2017-07-15 00:00:00

abstract：:Following a screen for neuromuscular mouse mutants, we identified ostes, a novel N-ethyl N-nitrosourea-induced mouse mutant with muscle atrophy. Genetic and biochemical evidence shows that upregulation of the novel, uncharacterized transient receptor potential polycystic (TRPP) channel PKD1L2 (polycystic kidney diseas...

journal_title：Human molecular genetics

authors： Mackenzie FE,Romero R,Williams D,Gillingwater T,Hilton H,Dick J,Riddoch-Contreras J,Wong F,Ireson L,Powles-Glover N,Riley G,Underhill P,Hough T,Arkell R,Greensmith L,Ribchester RR,Blanco G

更新日期：2009-10-01 00:00:00

abstract：:The molecular defects responsible for three cases of severe (type III) osteogenesis imperfecta (OI) were investigated. The mutation sites were localized in pro alpha 1(I) and pro alpha 2(I) mRNA molecules, respectively, by chemical cleavage of mismatch in heteroduplex nucleic acids. Mutation identification was achieve...

journal_title：Human molecular genetics

authors： Forlino A,Zolezzi F,Valli M,Pignatti PF,Cetta G,Brunelli PC,Mottes M

更新日期：1994-12-01 00:00:00

abstract：:Pheochromocytomas (PCCs) and paragangliomas (PGLs) are chromaffin-cell tumors that arise from the adrenal medulla and extra-adrenal paraganglia, respectively. The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a ...

journal_title：Human molecular genetics

authors： Comino-Méndez I,de Cubas AA,Bernal C,Álvarez-Escolá C,Sánchez-Malo C,Ramírez-Tortosa CL,Pedrinaci S,Rapizzi E,Ercolino T,Bernini G,Bacca A,Letón R,Pita G,Alonso MR,Leandro-García LJ,Gómez-Graña A,Inglada-Pérez L,Manciko

更新日期：2013-06-01 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：:CHARGE syndrome is a multiple congenital anomaly disorder that leads to life-threatening birth defects, such as choanal atresia and cardiac malformations as well as multiple sensory impairments, that affect hearing, vision, olfaction and balance. CHARGE is caused by heterozygous mutations in CHD7, which encodes an ATP...

journal_title：Human molecular genetics

authors： Micucci JA,Layman WS,Hurd EA,Sperry ED,Frank SF,Durham MA,Swiderski DL,Skidmore JM,Scacheri PC,Raphael Y,Martin DM

更新日期：2014-01-15 00:00:00

abstract：:Inherited mitochondrial optic neuropathies, such as Leber's hereditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial proteins that lead to defects in mitochondrial complex 1-driven ATP synthesis, and cause specific retinal ganglion cell (RGC) loss. Complex 1 def...

journal_title：Human molecular genetics

authors： Yu AK,Datta S,McMackin MZ,Cortopassi GA

更新日期：2017-12-15 00:00:00

abstract：:Epigenetic differences are a common feature of many diseases, including cancer, and disease-associated changes have even been detected in bodily fluids. DNA modification studies in circulating DNA (cirDNA) may lead to the development of specific non-invasive biomarkers. To test this hypothesis, we investigated cirDNA ...

journal_title：Human molecular genetics

authors： Cortese R,Kwan A,Lalonde E,Bryzgunova O,Bondar A,Wu Y,Gordevicius J,Park M,Oh G,Kaminsky Z,Tverkuviene J,Laurinavicius A,Jankevicius F,Sendorek DH,Haider S,Wang SC,Jarmalaite S,Laktionov P,Boutros PC,Petronis A

更新日期：2012-08-15 00:00:00

abstract：:Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle which manifests as a life-threatening hypermetabolic crisis triggered by commonly-used inhalation anaesthetics and depolarizing muscle relaxants. Defects in the ryanodine receptor (RYR1) protein have been proposed to under...

journal_title：Human molecular genetics

authors： Iles DE,Segers B,Sengers RC,Monsieurs K,Heytens L,Halsall PJ,Hopkins PM,Ellis FR,Hall-Curran JL,Stewart AD

更新日期：1993-07-01 00:00:00

abstract：:P-selectin is an adhesion molecule, expressed at the surface of activated cells, that mediates the interaction of activated endothelial cells or platelets with leukocytes. P-selectin expression is increased in atherosclerotic plaques, and high plasma levels of this molecule have been observed in patients with unstable...

journal_title：Human molecular genetics

authors： Herrmann SM,Ricard S,Nicaud V,Mallet C,Evans A,Ruidavets JB,Arveiler D,Luc G,Cambien F

更新日期：1998-08-01 00:00:00

abstract：:Convergent extension (CE) is a fundamental morphogenetic mechanism that underlies numerous processes in vertebrate development, and its disruption can lead to human congenital disorders such as neural tube closure defects. The dynamic, oriented cell intercalation during CE is regulated by a group of core proteins iden...

journal_title：Human molecular genetics

authors： Seo HS,Habas R,Chang C,Wang J

更新日期：2017-06-01 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：:Although the varepsilon4 allele of the apolipoprotein E gene appears as an important biological marker for Alzheimer's disease (AD) susceptibility, other genetic determinants are clearly implicated in the AD process. Here, we propose that a genetic variation in the transcriptional factor LBP-1c/CP2/LSF gene, located c...

journal_title：Human molecular genetics

authors： Lambert JC,Goumidi L,Vrièze FW,Frigard B,Harris JM,Cummings A,Coates J,Pasquier F,Cottel D,Gaillac M,St Clair D,Mann DM,Hardy J,Lendon CL,Amouyel P,Chartier-Harlin MC

更新日期：2000-09-22 00:00:00

abstract：:Mutations in the DKC1 gene are responsible for causing the bone marrow failure syndrome, dyskeratosis congenita (DKC; OMIM 305000). The majority of mutations identified to date are missense mutations and are clustered in exons 3, 4 and 11. It is predicted that the corresponding protein dyskerin is a nucleolar phosphop...

journal_title：Human molecular genetics

authors： Heiss NS,Girod A,Salowsky R,Wiemann S,Pepperkok R,Poustka A

更新日期：1999-12-01 00:00:00

abstract：:PAX genes encode nuclear transcription factors which are rapidly becoming regarded as major controllers of developmental processes in both vertebrates and invertebrates. Mutations in murine Pax genes underlie three natural mouse alleles and two corresponding human syndromes. Murine Pax genes have been shown to be prot...

journal_title：Human molecular genetics

authors： Stuart ET,Gruss P

更新日期：1995-01-01 00:00:00

abstract：:BCS1L encodes a homolog of the Saccharomyces cerevisiae bcs1 protein, which has a known role in the assembly of Complex III of the mitochondrial respiratory chain. Phenotypes reported in association with pathogenic BCS1L variants include growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis an...

journal_title：Human molecular genetics

authors： Oláhová M,Ceccatelli Berti C,Collier JJ,Alston CL,Jameson E,Jones SA,Edwards N,He L,Chinnery PF,Horvath R,Goffrini P,Taylor RW,Sayer JA

更新日期：2019-11-15 00:00:00

abstract：:In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafness, DFNB loci, we have pursued the analysis of large consanguineous affected families living in geographically isolated areas. Here, we report on the study of a Lebanese family comprising nine members presenting with a...

journal_title：Human molecular genetics

authors： Mustapha M,Weil D,Chardenoux S,Elias S,El-Zir E,Beckmann JS,Loiselet J,Petit C

更新日期：1999-03-01 00:00:00

abstract：:Genome-wide association studies (GWASs) identified over 500 single nucleotide polymorphisms (SNPs) influencing cancer risk. It is logical to expect the cancer-associated genes to cluster in pathways directly involved in carcinogenesis, e.g. cell cycle. Nevertheless, analyses of the GWAS-detected cancer risk genes usua...

journal_title：Human molecular genetics

authors： Gorlova OY,Demidenko EI,Amos CI,Gorlov IP

更新日期：2017-04-15 00:00:00

abstract：:We previously showed that disruptive complex I mutations in mitochondrial DNA are the main genetic hallmark of oncocytic tumors of the thyroid and kidney. We here report a high frequency of homoplasmic disruptive mutations in a large panel of oncocytic pituitary and head-and-neck tumors. The presence of such mutations...

journal_title：Human molecular genetics

authors： Porcelli AM,Ghelli A,Ceccarelli C,Lang M,Cenacchi G,Capristo M,Pennisi LF,Morra I,Ciccarelli E,Melcarne A,Bartoletti-Stella A,Salfi N,Tallini G,Martinuzzi A,Carelli V,Attimonelli M,Rugolo M,Romeo G,Gasparre G

更新日期：2010-03-15 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：:Spinal muscular atrophy (SMA), a frequent neurodegenerative disease, is caused by reduced levels of functional survival of motoneuron (SMN) protein. SMN is involved in multiple pathways, including RNA metabolism and splicing as well as motoneuron development and function. Here we provide evidence for a major contribut...

journal_title：Human molecular genetics

authors： Nölle A,Zeug A,van Bergeijk J,Tönges L,Gerhard R,Brinkmann H,Al Rayes S,Hensel N,Schill Y,Apkhazava D,Jablonka S,O'mer J,Srivastav RK,Baasner A,Lingor P,Wirth B,Ponimaskin E,Niedenthal R,Grothe C,Claus P

更新日期：2011-12-15 00:00:00

abstract：:A susceptibility locus for coronary artery disease (CAD) at chromosome 9p21 has recently been reported, which may influence the age of onset of CAD. We sought to replicate these findings among white subjects and to examine whether these results are consistent with other racial/ethnic groups by genotyping three single ...

journal_title：Human molecular genetics

authors： Assimes TL,Knowles JW,Basu A,Iribarren C,Southwick A,Tang H,Absher D,Li J,Fair JM,Rubin GD,Sidney S,Fortmann SP,Go AS,Hlatky MA,Myers RM,Risch N,Quertermous T

更新日期：2008-08-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts that ultimately destroy kidney function. Mutations in the PKD1 and PKD2 genes cause ADPKD. Their protein products, polycystin-1 (PC1) and polycystin-2 (PC2) have been proposed to form a calcium-permeable receptor-channel...

journal_title：Human molecular genetics

authors： Parnell SC,Magenheimer BS,Maser RL,Pavlov TS,Havens MA,Hastings ML,Jackson SF,Ward CJ,Peterson KR,Staruschenko A,Calvet JP

更新日期：2018-10-01 00:00:00

abstract：:Huntington's disease (HD) is caused by an expansion of a poly glutamine (polyQ) stretch in the huntingtin protein (HTT) that is necessary to cause pathology and formation of HTT aggregates. Here we ask whether expanded polyQ is sufficient to cause pathology and aggregate formation. By addressing the sufficiency questi...

journal_title：Human molecular genetics

authors： Chongtham A,Bornemann DJ,Barbaro BA,Lukacsovich T,Agrawal N,Syed A,Worthge S,Purcell J,Burke J,Chin TM,Marsh JL

更新日期：2020-03-13 00:00:00

abstract：:X chromosome inactivation (XCI) is an epigenetic mechanism that silences the majority of genes on one X chromosome in females. Previous studies have suggested that the spread of XCI might be facilitated in part by common repeats such as long interspersed nuclear elements (LINEs). However, owing to the unusual sequence...

journal_title：Human molecular genetics

authors： Bala Tannan N,Brahmachary M,Garg P,Borel C,Alnefaie R,Watson CT,Thomas NS,Sharp AJ

更新日期：2014-03-01 00:00:00

abstract：:Mutations in RP2 cause the second most frequent form of X-linked retinitis pigmentosa, a severe retinal degeneration that leads to loss of visual acuity and blindness. The RP2 gene encodes a protein with homology to cofactor C, a tubulin-folding chaperone. By searching protein sequence databases, we identified a whole...

journal_title：Human molecular genetics

authors： Schwahn U,Paland N,Techritz S,Lenzner S,Berger W

更新日期：2001-05-15 00:00:00