A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese.

abstract：:Cystic fibrosis (CF) is a multiorgan recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Gene therapy efforts have focused on treating the lung, since it manifests the most significant life-threatening disease. Over two decades have past since the first...

journal_title：Human molecular genetics

authors： Yan Z,McCray PB Jr,Engelhardt JF

更新日期：2019-10-01 00:00:00

abstract：:To determine factors governing triplet repeat expansion at FMR1, we need to understand the basis of normal variation. We have sequenced the FMR1 repeat from 102 normal X chromosomes and show that most are interrupted with a regularly spaced AGG trinucleotide giving an ordered structure to the array. Five types of arra...

journal_title：Human molecular genetics

authors： Hirst MC,Grewal PK,Davies KE

更新日期：1994-09-01 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：: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：:Nuclear Factor-kappaB (NF-kappaB) is a major transcription regulator of immune response, apoptosis and cell-growth control genes, and is upregulated in inflammatory bowel disease (IBD), both ulcerative colitis (UC) and Crohn's disease. The NFKB1 gene encodes the NF-kappaB p105/p50 isoforms. Genome-wide screens in IBD ...

journal_title：Human molecular genetics

authors： Karban AS,Okazaki T,Panhuysen CI,Gallegos T,Potter JJ,Bailey-Wilson JE,Silverberg MS,Duerr RH,Cho JH,Gregersen PK,Wu Y,Achkar JP,Dassopoulos T,Mezey E,Bayless TM,Nouvet FJ,Brant SR

更新日期：2004-01-01 00:00:00

abstract：:Lysosomes, melanosomes and platelet-dense granules are abnormal in the mouse hypopigmentation mutant pearl. The beta3A subunit of the AP-3 adaptor complex, which likely regulates protein trafficking in the trans - Golgi network/endosomal compartments, was identified as a candidate for the pearl gene by a positional/ca...

journal_title：Human molecular genetics

authors： Feng L,Seymour AB,Jiang S,To A,Peden AA,Novak EK,Zhen L,Rusiniak ME,Eicher EM,Robinson MS,Gorin MB,Swank RT

更新日期：1999-02-01 00:00:00

abstract：:Huntington's disease (HD) is a dominantly inherited genetic disease caused by mutant huntingtin (htt) protein with expanded polyglutamine (polyQ) tracts. A neuropathological hallmark of HD is the presence of neuronal inclusions of mutant htt. p62 is an important regulatory protein in selective autophagy, a process by ...

journal_title：Human molecular genetics

authors： Kurosawa M,Matsumoto G,Kino Y,Okuno M,Kurosawa-Yamada M,Washizu C,Taniguchi H,Nakaso K,Yanagawa T,Warabi E,Shimogori T,Sakurai T,Hattori N,Nukina N

更新日期：2015-02-15 00:00:00

abstract：:The most common form of hereditary haemochromatosis is an adult-onset condition usually associated with the HFE C282Y/C282Y genotype. The phenotypic expression of this genotype is heterogeneous and depends on a complex interplay of genetic and non-genetic factors. The aim of the present study was to determine if mutat...

journal_title：Human molecular genetics

authors： Le Gac G,Scotet V,Ka C,Gourlaouen I,Bryckaert L,Jacolot S,Mura C,Férec C

更新日期：2004-09-01 00:00:00

abstract：:Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in either of two genes, TSC1 or TSC2, resulting in the constitutive activation of the mammalian target of rapamycin complex 1 (mTORC1). mTOR inhibitors are now considered the treatment of choice for TSC disease. A major path...

journal_title：Human molecular genetics

authors： Magini A,Polchi A,Di Meo D,Mariucci G,Sagini K,De Marco F,Cassano T,Giovagnoli S,Dolcetta D,Emiliani C

更新日期：2017-09-01 00:00:00

abstract：:The human gene HIC1 (hypermethylated in cancer) maps to chromosome 17p13.3 and is deleted in the contiguous gene disorder Miller-Dieker syndrome (MDS) [Makos-Wales et al. (1995) Nature Med., 1, 570-577; Chong et al. (1996) Genome Res., 6, 735-741]. We isolated the murine homologue Hic1, encoding a zinc-finger protein ...

journal_title：Human molecular genetics

authors： Grimm C,Spörle R,Schmid TE,Adler ID,Adamski J,Schughart K,Graw J

更新日期：1999-04-01 00:00:00

abstract：:Poly(ADP-ribose) polymerase 2 (PARP-2) is a newly discovered member of the PARP family. We report the association of PARP-2 with mammalian centromeres in a cell-cycle-dependent manner, accumulating at centromeres during prometaphase and metaphase, disassociating during anaphase, and disappearing from the centromeres b...

journal_title：Human molecular genetics

authors： Saxena A,Wong LH,Kalitsis P,Earle E,Shaffer LG,Choo KH

更新日期：2002-09-15 00:00:00

abstract：:Human homologues of mouse cancer modifier genes may play a role in cancer risk and prognosis. A proportion of the familial risk of common cancers may be attributable to variants in such genes, each contributing to a small effect. The protein tyrosine phosphatase receptor type J (PTPRJ) has been recently identified as ...

journal_title：Human molecular genetics

authors： Lesueur F,Pharoah PD,Laing S,Ahmed S,Jordan C,Smith PL,Luben R,Wareham NJ,Easton DF,Dunning AM,Ponder BA

更新日期：2005-08-15 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：:BRCA1 and BRCA2 germline mutations account for <5% of breast cancer cases. Less penetrant breast cancer susceptibility genes are likely to exist. Earlier studies have suggested involvement of the HLA region. The HLA region was genotyped with 24 microsatellite markers and markers for two single nucleotide polymorphisms...

journal_title：Human molecular genetics

authors： de Jong MM,Nolte IM,de Vries EG,Schaapveld M,Kleibeuker JH,Oosterom E,Oosterwijk JC,van der Hout AH,van der Steege G,Bruinenberg M,Boezen HM,Te Meerman GJ,van der Graaf WT

更新日期：2003-09-15 00:00:00

abstract：:Schizophrenia may arise from subtle abnormalities in brain development due to alterations in the functions of candidate susceptibility genes such as Disrupted-in-schizophrenia 1 (DISC1) and Neuregulin 1 (NRG1). To provide novel insights into the functions of DISC1 in brain development, we mapped the expression of zebr...

journal_title：Human molecular genetics

authors： Wood JD,Bonath F,Kumar S,Ross CA,Cunliffe VT

更新日期：2009-02-01 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：:Duchenne and Becker muscular dystrophies (DMD/BMD) are caused by mutations in the human dystrophin gene. About two-thirds of DMD/BMD patients exhibit gross rearrangements in the gene whereas the mutations in the remaining one third are thought to be point mutations or minor structural lesions. By means of various prog...

journal_title：Human molecular genetics

authors： Lenk U,Hanke R,Thiele H,Speer A

更新日期：1993-11-01 00:00:00

abstract：:Losing of ovarian functions prior to natural menopause age causes female infertility and early menopause. Premature ovarian insufficiency (POI) is defined as the loss of ovarian activity before 40 years of age. Known genetic causes account for 25-30% of POI cases, demonstrating the high genetic heterogeneity of POI an...

journal_title：Human molecular genetics

authors： Chen Q,Ke H,Luo X,Wang L,Wu Y,Tang S,Li J,Jin L,Zhang F,Qin Y,Chen X

更新日期：2020-09-29 00:00:00

abstract：:Huntington's disease (HD) is caused by expansion of the polymorphic polyglutamine segment in the huntingtin protein. Full-length huntingtin is thought to be a predominant HEAT repeat alpha-solenoid, implying a role as a facilitator of macromolecular complexes. Here we have investigated huntingtin's domain structure an...

journal_title：Human molecular genetics

authors： Seong IS,Woda JM,Song JJ,Lloret A,Abeyrathne PD,Woo CJ,Gregory G,Lee JM,Wheeler VC,Walz T,Kingston RE,Gusella JF,Conlon RA,MacDonald ME

更新日期：2010-02-15 00:00:00

abstract：:The tumour suppressor gene PTEN, localized to 10q23.3, is the susceptibility gene for Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba (BRR) syndrome, two hamartoma syndromes with an increased risk of breast and thyroid tumours. Somatic mutations have been found in a variety of human tumours. Functional studies have ...

journal_title：Human molecular genetics

authors： Gimm O,Attié-Bitach T,Lees JA,Vekemans M,Eng C

更新日期：2000-07-01 00:00:00

abstract：:Dysfunction of mitochondrial translation is an increasingly important molecular cause of human disease, but structural defects of mitochondrial ribosomal subunits are rare. We used next-generation sequencing to identify a homozygous variant in the mitochondrial small ribosomal protein 14 (MRPS14, uS14m) in a patient m...

journal_title：Human molecular genetics

authors： Jackson CB,Huemer M,Bolognini R,Martin F,Szinnai G,Donner BC,Richter U,Battersby BJ,Nuoffer JM,Suomalainen A,Schaller A

更新日期：2019-02-15 00:00:00

abstract：:Polycystin-1 (PC1), encoded by the PKD1 gene that is mutated in the autosomal dominant polycystic kidney disease, regulates a number of processes including bone development. Activity of the transcription factor RunX2, which controls osteoblast differentiation, is reduced in Pkd1 mutant mice but the mechanism governing...

journal_title：Human molecular genetics

authors： Merrick D,Mistry K,Wu J,Gresko N,Baggs JE,Hogenesch JB,Sun Z,Caplan MJ

更新日期：2019-01-01 00:00:00

abstract：:Successful human development is dependent upon a cascade of events following fertilization. Unfortunately, knowledge of these critical events in humans is remarkably incomplete. Although hundreds of thousands of human embryos are cultured yearly at infertility centers worldwide, the vast majority fail to develop in cu...

journal_title：Human molecular genetics

authors： Dobson AT,Raja R,Abeyta MJ,Taylor T,Shen S,Haqq C,Pera RA

更新日期：2004-07-15 00:00:00

abstract：:A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed during human and murine ...

journal_title：Human molecular genetics

authors： Halford S,Wadey R,Roberts C,Daw SC,Whiting JA,O'Donnell H,Dunham I,Bentley D,Lindsay E,Baldini A

更新日期：1993-12-01 00:00:00

abstract：:Presenilins 1 and 2 (PS1/2), causative molecules for familial Alzheimer's disease (FAD), are multipass transmembrane proteins localized predominantly in the endoplasmic reticulum (ER) and Golgi apparatus. Heteromeric protein complexes containing PS1/2 are thought to participate in several functions, including intramem...

journal_title：Human molecular genetics

authors： Wang HQ,Nakaya Y,Du Z,Yamane T,Shirane M,Kudo T,Takeda M,Takebayashi K,Noda Y,Nakayama KI,Nishimura M

更新日期：2005-07-01 00:00:00

abstract：:Gene therapy holds great promise for curing Duchenne muscular dystrophy (DMD), the most common fatal inherited childhood muscle disease. Success of DMD gene therapy depends upon functional improvement in both skeletal and cardiac muscle. Numerous gene transfer studies have been performed to correct skeletal muscle pat...

journal_title：Human molecular genetics

authors： Yue Y,Skimming JW,Liu M,Strawn T,Duan D

更新日期：2004-08-01 00:00:00

abstract：:We recently described two opposing states of transcriptional competency. One is termed 'competent' whereby a gene is capable of responding to trans-acting transcription factors of the cell, such that it is active if appropriate transcriptional activators are present, though it can also be silent if activators are abse...

journal_title：Human molecular genetics

authors： Lee JH,Gaetz J,Bugarija B,Fernandes CJ,Snyder GE,Bush EC,Lahn BT

更新日期：2009-07-15 00:00:00

abstract：:Abdominal aortic aneurysm (AAA) is a major cause of sudden death in the elderly. While AAA has some overlapping genetic and environmental risk factors with atherosclerosis, there are substantial differences, and AAA-specific medication is lacking. A recent meta-analysis of genome-wide association studies has identifie...

journal_title：Human molecular genetics

authors： Marsman J,Gimenez G,Day RC,Horsfield JA,Jones GT

更新日期：2020-03-13 00:00:00

abstract：:Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are among the most common motor neuron diseases to afflict the human population. A deficiency of the survival of motor neuron (SMN) protein causes SMA and is also reported to be an exacerbating factor in the development of ALS. However, pathways lin...

journal_title：Human molecular genetics

authors： Kariya S,Re DB,Jacquier A,Nelson K,Przedborski S,Monani UR

更新日期：2012-08-01 00:00:00

abstract：:An amphibian homologue of the human cystic fibrosis transmembrane conductance regulator (CFTR) gene has been isolated from Xenopus laevis by polymerase chain reaction (PCR) amplification. The 4455bp sequence encodes a predicted polypeptide of 1485 amino acids which has an overall homology at the amino acid level of 77...

journal_title：Human molecular genetics

authors： Tucker SJ,Tannahill D,Higgins CF

更新日期：1992-05-01 00:00:00