Genetic and epigenetic mechanisms combine to control MMP1 expression and its association with preterm premature rupture of membranes.

abstract：:The gene encoding the gamma chain of the lymphocyte interleukin-2 receptor has been cloned and shown to be required to associate with the beta chain in order for IL-2 internalization and cell activation to occur (1). We considered this gene, IL2RG, a candidate for the X-linked form of severe combined immunodeficiency ...

journal_title：Human molecular genetics

authors： Puck JM,Deschênes SM,Porter JC,Dutra AS,Brown CJ,Willard HF,Henthorn PS

更新日期：1993-08-01 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 early growth response 2 gene ( EGR2 ) is a Cys2His2zinc finger transcription factor which is thought to play a role in the regulation of peripheral nervous system myelination. This idea is based partly on the phenotype of homozygous Krox20 ( Egr2 ) knockout mice, which display hypomyelination of the PNS and a bloc...

journal_title：Human molecular genetics

authors： Warner LE,Svaren J,Milbrandt J,Lupski JR

更新日期：1999-07-01 00:00:00

abstract：:Congenital vertebral malformations (CVMs) are associated with human TBX6 compound inheritance that combines a rare null allele and a common hypomorphic allele at the TBX6 locus. Our previous in vitro evidence suggested that this compound inheritance resulted in a TBX6 gene dosage of less than haploinsufficiency (i.e. ...

journal_title：Human molecular genetics

authors： Yang N,Wu N,Zhang L,Zhao Y,Liu J,Liang X,Ren X,Li W,Chen W,Dong S,Zhao S,Lin J,Xiang H,Xue H,Chen L,Sun H,Zhang J,Shi J,Zhang S,Lu D,Wu X,Jin L,Ding J,Qiu G,Wu Z,Lupski JR,Zhang F

更新日期：2019-02-15 00:00:00

abstract：:There are two known mRNA degradation pathways, 3' to 5' and 5' to 3'. We identified likely pathogenic variants in two genes involved in these two pathways in individuals with intellectual disability. In a large family with multiple branches, we identified biallelic variants in DCPS in three affected individuals; a spl...

journal_title：Human molecular genetics

authors： Ahmed I,Buchert R,Zhou M,Jiao X,Mittal K,Sheikh TI,Scheller U,Vasli N,Rafiq MA,Brohi MQ,Mikhailov A,Ayaz M,Bhatti A,Sticht H,Nasr T,Carter MT,Uebe S,Reis A,Ayub M,John P,Kiledjian M,Vincent JB,Jamra RA

更新日期：2015-06-01 00:00:00

abstract：:The human genomic instability syndrome ataxia telangiectasia (A-T), caused by mutations in the gene encoding the DNA damage checkpoint kinase ATM, is characterized by multisystem defects including neurodegeneration, immunodeficiency and increased cancer predisposition. ATM is central to a pathway that responds to doub...

journal_title：Human molecular genetics

authors： Balmus G,Zhu M,Mukherjee S,Lyndaker AM,Hume KR,Lee J,Riccio ML,Reeves AP,Sutter NB,Noden DM,Peters RM,Weiss RS

更新日期：2012-08-01 00:00:00

abstract：:Immunoglobulin-like domain containing receptor 1 (ILDR1) is a poorly characterized gene that was first identified in lymphoma cells. Recently, ILDR1 has been found to be responsible for autosomal recessive hearing impairment DFNB42. Patients with ILDR1 mutations cause bilateral non-progressive moderate-to-profound sen...

journal_title：Human molecular genetics

authors： Sang Q,Zhang J,Feng R,Wang X,Li Q,Zhao X,Xing Q,Chen W,Du J,Sun S,Chai R,Liu D,Jin L,He L,Li H,Wang L

更新日期：2014-12-01 00:00:00

abstract：:Alzheimer's disease (AD) and related tauopathies comprise a large group of neurodegenerative diseases associated with the pathological aggregation of tau protein. While much effort has focused on understanding the function of tau, little is known about the endogenous mechanisms regulating tau metabolism in vivo and ho...

journal_title：Human molecular genetics

authors： Smith PY,Hernandez-Rapp J,Jolivette F,Lecours C,Bisht K,Goupil C,Dorval V,Parsi S,Morin F,Planel E,Bennett DA,Fernandez-Gomez FJ,Sergeant N,Buée L,Tremblay MÈ,Calon F,Hébert SS

更新日期：2015-12-01 00:00:00

abstract：:Huntington's disease (HD) and myotonic dystrophy (DM1) are caused by trinucleotide repeat expansions. The repeats show different instability patterns according to the disorder, cell type and developmental stage. Here we studied the behavior of these repeats in DM1- and HD-derived human embryonic stem cells (hESCs) bef...

journal_title：Human molecular genetics

authors： Seriola A,Spits C,Simard JP,Hilven P,Haentjens P,Pearson CE,Sermon K

更新日期：2011-01-01 00:00:00

abstract：:Missing teeth (hypodontia and oligodontia) are a common developmental abnormality in humans and heterozygous mutations of PAX9 have recently been shown to underlie a number of familial, non-syndromic cases. Whereas PAX9 haploinsufficiency has been suggested as the underlying genetic mechanism, it is not known how this...

journal_title：Human molecular genetics

authors： Kist R,Watson M,Wang X,Cairns P,Miles C,Reid DJ,Peters H

更新日期：2005-12-01 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：:Potocki-Lupski syndrome (PTLS; MIM #610883), characterized by neurobehavioral abnormalities, intellectual disability and congenital anomalies, is caused by a 3.7-Mb duplication in 17p11.2. Neurobehavioral studies determined that ∼70-90% of PTLS subjects tested positive for autism or autism spectrum disorder (ASD). We ...

journal_title：Human molecular genetics

authors： Lacaria M,Spencer C,Gu W,Paylor R,Lupski JR

更新日期：2012-07-15 00:00:00

abstract：:Prolactinomas are the most frequent type of pituitary tumors, which represent 10-20% of all intracranial neoplasms in humans. Prolactinomas develop in mice lacking the prolactin receptor (PRLR), which is a member of the cytokine receptor superfamily that signals via Janus kinase-2-signal transducer and activator of tr...

journal_title：Human molecular genetics

authors： Gorvin CM,Newey PJ,Rogers A,Stokes V,Neville MJ,Lines KE,Ntali G,Lees P,Morrison PJ,Singhellakis PN,Malandrinou FC,Karavitaki N,Grossman AB,Karpe F,Thakker RV

更新日期：2019-03-15 00:00:00

abstract：:We report identification of a novel genetic locus (GLC1P) for normal tension glaucoma (NTG) on chromosome 12q14 using linkage studies of an African-American pedigree (maximum non-parametric linkage score = 19.7, max LOD score = 2.7). Subsequent comparative genomic hybridization and quantitative polymerase chain reacti...

journal_title：Human molecular genetics

authors： Fingert JH,Robin AL,Stone JL,Roos BR,Davis LK,Scheetz TE,Bennett SR,Wassink TH,Kwon YH,Alward WL,Mullins RF,Sheffield VC,Stone EM

更新日期：2011-06-15 00:00:00

abstract：:Huntington disease (HD) is a genetic neurodegenerative disorder for which there is currently no cure and no way to stop or even slow the brain changes it causes. In the present study, we aimed to investigate whether FTY720, the first approved oral therapy for multiple sclerosis, may be effective in HD models and event...

journal_title：Human molecular genetics

authors： Di Pardo A,Amico E,Favellato M,Castrataro R,Fucile S,Squitieri F,Maglione V

更新日期：2014-05-01 00:00:00

abstract：:Infantile neuronal ceroid lipofuscinosis (INCL), a neurodegenerative storage disorder of childhood, is caused by mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. PPT1 cleaves thioester linkages in S-acylated (palmitoylated) proteins and its mutation causes abnormal intracellular accumulation of fatty-acy...

journal_title：Human molecular genetics

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

更新日期：2006-06-01 00:00:00

abstract：:Huntington's disease is neurodegenerative disorder caused by a polyglutamine expansion in the N-terminal region of the huntingtin protein (N17). Here, we analysed the relative contribution of each phosphorylatable residue in the N17 region (T3, S13 and S16) towards huntingtin exon 1 (HTTex1) oligomerization, aggregati...

journal_title：Human molecular genetics

authors： Branco-Santos J,Herrera F,Poças GM,Pires-Afonso Y,Giorgini F,Domingos PM,Outeiro TF

更新日期：2017-10-01 00:00:00

abstract：:Twist1 is a basic helix-loop-helix transcription factor, essential during early development in mammals. While Twist1 induces epithelial-to-mesenchymal transition (EMT), here we show that Twist1 overexpression enhances nuclear and mitotic aberrations. This is accompanied by an increase in whole chromosomal copy number ...

journal_title：Human molecular genetics

authors： Khot M,Sreekumar D,Jahagirdar S,Kulkarni A,Hari K,Faseela EE,Sabarinathan R,Jolly MK,Sengupta K

更新日期：2020-06-27 00:00:00

abstract：:Inherited peripheral neuropathies are a heterogeneous group of disorders that can affect patients of all ages. Children with inherited neuropathy often develop severe disability, but the genetic causes of recessive early-onset axonal neuropathies are not fully known. We have taken a whole-exome sequencing approach to ...

journal_title：Human molecular genetics

authors： Ylikallio E,Pöyhönen R,Zimon M,De Vriendt E,Hilander T,Paetau A,Jordanova A,Lönnqvist T,Tyynismaa H

更新日期：2013-08-01 00:00:00

abstract：:Human chromosome 15q11-13 is a complex locus containing imprinted genes as well as a cluster of three GABA(A) receptor subunit (GABR) genes-GABRB3, GABRA5 and GABRG3. Deletion or duplication of 15q11-13 GABR genes occurs in multiple human neurodevelopmental disorders including Prader-Willi syndrome (PWS), Angelman syn...

journal_title：Human molecular genetics

authors： Hogart A,Nagarajan RP,Patzel KA,Yasui DH,Lasalle JM

更新日期：2007-03-15 00:00:00

abstract：:Recessive mutations in myosin 15, a class XV unconventional myosin, cause profound congenital deafness in humans and both deafness and vestibular dysfunction in mice homozygous for the shaker 2 and shaker 2(J) alleles. The shaker 2 allele is a previously described missense mutation of a highly conserved residue in the...

journal_title：Human molecular genetics

authors： Anderson DW,Probst FJ,Belyantseva IA,Fridell RA,Beyer L,Martin DM,Wu D,Kachar B,Friedman TB,Raphael Y,Camper SA

更新日期：2000-07-22 00:00:00

abstract：:Distal arthrogryposis (DA) is a heterogeneous subgroup of arthrogryposis multiplex congenita (AMC), a large family of disorders characterized by multiple congenital joint limitations due to reduced fetal movements. DA is mainly characterized by contractures afflicting especially the distal extremities without overt mu...

journal_title：Human molecular genetics

authors： Dieterich K,Quijano-Roy S,Monnier N,Zhou J,Fauré J,Smirnow DA,Carlier R,Laroche C,Marcorelles P,Mercier S,Mégarbané A,Odent S,Romero N,Sternberg D,Marty I,Estournet B,Jouk PS,Melki J,Lunardi J

更新日期：2013-04-15 00:00:00

abstract：:Maintenance of an intact mitochondrial genome is essential for oxidative phosphorylation in all eukaryotes. Depletion of mitochondrial genome copy number can have severe pathological consequences due to loss of respiratory capacity. In Saccharomyces cerevisiae, several bifunctional metabolic enzymes have been shown to...

journal_title：Human molecular genetics

authors： Iacovino M,Granycome C,Sembongi H,Bokori-Brown M,Butow RA,Holt IJ,Bateman JM

更新日期：2009-01-01 00:00:00

abstract：:Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA) the pigment deficiency involves the skin, hair, and eyes, whereas in ocular albinism (OA) the defect involves principally the visual system. Type I (tyrosinase-deficient) OCA results from ...

journal_title：Human molecular genetics

authors： Spritz RA

更新日期：1994-01-01 00:00:00

abstract：:The congenital malformation split hand/foot (SHFM) is characterized by missing central fingers and dysmorphology or fusion of the remaining ones. Type-1 SHFM is linked to deletions/rearrangements of the DLX5-DLX6 locus and point mutations in the DLX5 gene. The ectrodactyly phenotype is reproduced in mice by the double...

journal_title：Human molecular genetics

authors： Conte D,Garaffo G,Lo Iacono N,Mantero S,Piccolo S,Cordenonsi M,Perez-Morga D,Orecchia V,Poli V,Merlo GR

更新日期：2016-02-15 00:00:00

abstract：:Nance-Horan syndrome (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, dental anomalies, facial dysmorphism and mental retardation. Null mutations in a novel gene, NHS, cause the syndrome. The NHS gene appears to have multiple isoforms as a result of alternative transcriptio...

journal_title：Human molecular genetics

authors： Brooks SP,Coccia M,Tang HR,Kanuga N,Machesky LM,Bailly M,Cheetham ME,Hardcastle AJ

更新日期：2010-06-15 00:00:00

abstract：:Chromosomal common fragile sites (CFSs) are genetically unstable regions of the genome that are induced by conditions that impair DNA replication. In this report, we show that treatment with the DNA polymerase inhibitor, aphidicolin (APH), slows the replication rate throughout S phase. To investigate the unusual sensi...

journal_title：Human molecular genetics

authors： Palakodeti A,Lucas I,Jiang Y,Young DJ,Fernald AA,Karrison T,Le Beau MM

更新日期：2010-01-01 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：:Mitochondria undergo continuous cycles of fusion and fission in response to physiopathological stimuli. The key player in mitochondrial fission is dynamin-related protein 1 (DRP1), a cytosolic protein encoded by dynamin 1-like (DNM1L) gene, which relocalizes to the outer mitochondrial membrane, where it assembles, oli...

journal_title：Human molecular genetics

authors： Longo F,Benedetti S,Zambon AA,Sora MGN,Di Resta C,De Ritis D,Quattrini A,Maltecca F,Ferrari M,Previtali SC

更新日期：2020-01-15 00:00:00

abstract：:Clinical trials are underway for the treatment of tuberous sclerosis (TSC)-associated tumours using mTOR inhibitors. Here, we show that many of the earliest renal lesions from Tsc1+/- and Tsc2+/- mice do not exhibit mTOR activation, suggesting that pharmacological targeting of an alternative pathway may be necessary t...

journal_title：Human molecular genetics

authors： Bonnet CS,Aldred M,von Ruhland C,Harris R,Sandford R,Cheadle JP

更新日期：2009-06-15 00:00:00