Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue.

abstract：:Adoptively transferred antigen-specific T cells that recognize tumor antigens through their native receptors have many potential benefits as treatment for virus-associated diseases and malignancies, due to their ability to selectively recognize tumor antigens, expand and persist to provide long-term protection. Infusi...

journal_title：Human molecular genetics

authors： Manzo T,Heslop HE,Rooney CM

更新日期：2015-10-15 00:00:00

abstract：:Progressive myoclonus epilepsy of Lafora type (LD, MIM 254780) is a fatal autosomal recessive disorder characterized by the presence of progressive neurological deterioration, myoclonus, epilepsy and polyglucosan intracellular inclusion bodies, called Lafora bodies. Lafora bodies resemble glycogen with reduced branchi...

journal_title：Human molecular genetics

authors： Fernández-Sánchez ME,Criado-García O,Heath KE,García-Fojeda B,Medraño-Fernández I,Gomez-Garre P,Sanz P,Serratosa JM,Rodríguez de Córdoba S

更新日期：2003-12-01 00:00:00

abstract：:Mutations in PTEN-induced putative kinase 1 (PINK1) or parkin cause autosomal recessive forms of Parkinson disease (PD), but how these mutations trigger neurodegeneration is poorly understood and the exact functional relationship between PINK1 and parkin remains unclear. Here, we report that PINK1 regulates the E3 ubi...

journal_title：Human molecular genetics

authors： Sha D,Chin LS,Li L

更新日期：2010-01-15 00:00:00

abstract：:Otosclerosis is a relatively common heterogenous condition, characterized by abnormal bone remodelling in the otic capsule leading to fixation of the stapedial footplate and an associated conductive hearing loss. Although familial linkage and candidate gene association studies have been performed in recent years, litt...

journal_title：Human molecular genetics

authors： Ziff JL,Crompton M,Powell HR,Lavy JA,Aldren CP,Steel KP,Saeed SR,Dawson SJ

更新日期：2016-06-15 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：:Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Individuals with this disorder also have an increased incidence of hypertension, diabetes mellitus, and renal and cardiac anomalies. We previously identified a locu...

journal_title：Human molecular genetics

authors： Sheffield VC,Carmi R,Kwitek-Black A,Rokhlina T,Nishimura D,Duyk GM,Elbedour K,Sunden SL,Stone EM

更新日期：1994-08-01 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：:Genome editing to correct a defective β-globin gene or induce fetal globin (HbF) for patients with beta-hemoglobinopathies has the potential to be a curative strategy available to all. HbF reactivation has long been an area of intense interest given the HbF inhibition of sickle hemoglobin (HbS) polymerization. Patient...

journal_title：Human molecular genetics

authors： Demirci S,Leonard A,Tisdale JF

更新日期：2020-09-30 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：:Missense mutations and extra copies of the alpha-Synuclein gene result in Parkinson disease (PD). Human stem and progenitor cells can be expanded from embryonic tissues and provide a source of non-transformed neural cells to explore the effects of these pathogenic mutations specifically in human nervous tissue. We ove...

journal_title：Human molecular genetics

authors： Schneider BL,Seehus CR,Capowski EE,Aebischer P,Zhang SC,Svendsen CN

更新日期：2007-03-15 00:00:00

abstract：:p53 is one of the most important known tumor suppressor genes, and it is inactivated in approximately half of human cancers. p53 family members execute various functions, such as apoptosis induction and cell cycle arrest, by modulating transcriptional regulation. Therefore, the direct transcriptional targets of the p5...

journal_title：Human molecular genetics

authors： Idogawa M,Ohashi T,Sasaki Y,Maruyama R,Kashima L,Suzuki H,Tokino T

更新日期：2014-06-01 00:00:00

abstract：:An important class of genetic variants that affect disease susceptibility may lie within regulatory elements that influence gene expression. Regulatory sequences are difficult to identify and may be distant from the genes they regulate, but many lie within evolutionarily conserved regions (ECRs). We used comparative g...

journal_title：Human molecular genetics

authors： Palles C,Johnson N,Coupland B,Taylor C,Carvajal J,Holly J,Fentiman IS,Silva Idos S,Ashworth A,Peto J,Fletcher O

更新日期：2008-05-15 00:00:00

abstract：:Leptomeningeal glioneuronal heterotopia (LGH) is a focal malformation of the cerebral cortex and frequently found in patients with thanatophoric dysplasia (TD). The pathophysiological mechanisms underlying LGH formation are still largely unclear because of difficulties in obtaining brain samples from human TD patients...

journal_title：Human molecular genetics

authors： Matsumoto N,Kobayashi N,Uda N,Hirota M,Kawasaki H

更新日期：2018-03-15 00:00:00

abstract：:The recently described DNA replication-based mechanisms of fork stalling and template switching (FoSTeS) and microhomology-mediated break-induced replication (MMBIR) were previously shown to catalyze complex exonic, genic and genomic rearrangements. By analyzing a large number of isochromosomes of the long arm of chro...

journal_title：Human molecular genetics

authors： Koumbaris G,Hatzisevastou-Loukidou H,Alexandrou A,Ioannides M,Christodoulou C,Fitzgerald T,Rajan D,Clayton S,Kitsiou-Tzeli S,Vermeesch JR,Skordis N,Antoniou P,Kurg A,Georgiou I,Carter NP,Patsalis PC

更新日期：2011-05-15 00:00:00

abstract：:Centronuclear myopathies (CNM) are a subtype of congenital myopathies (CM) characterized by skeletal muscle weakness and an increase in the number of central myonuclei. We have previously identified three CNM probands, two with associated dilated cardiomyopathy, carrying striated preferentially expressed gene (SPEG) m...

journal_title：Human molecular genetics

authors： Huntoon V,Widrick JJ,Sanchez C,Rosen SM,Kutchukian C,Cao S,Pierson CR,Liu X,Perrella MA,Beggs AH,Jacquemond V,Agrawal PB

更新日期：2018-05-01 00:00:00

abstract：:The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype consisting of three non-synonymous polymorphisms (C157R, M378V, M681T) ...

journal_title：Human molecular genetics

authors： Suzuki Y,Pasch A,Bonny O,Mohaupt MG,Hediger MA,Frey FJ

更新日期：2008-06-01 00:00:00

abstract：:Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in TSC1 or TSC2 resulting in hyperactivity of the mammalian target of rapamycin and disabling brain lesions. These lesions contain misplaced neurons enriched in hypoxia-inducible factor 1a (HIF1a). However, the relationship between TSC1/2 and H...

journal_title：Human molecular genetics

authors： Feliciano DM,Zhang S,Quon JL,Bordey A

更新日期：2013-05-01 00:00:00

abstract：:Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by a polyglutamine-encoding CAG repeat expansion in the ATXN3 gene. This expansion leads to misfolding and aggregation of mutant ataxin-3 (ATXN3) and degeneration of select brain regions. A key unanswered question in SCA3 and other polyglutami...

journal_title：Human molecular genetics

authors： Ramani B,Panwar B,Moore LR,Wang B,Huang R,Guan Y,Paulson HL

更新日期：2017-09-01 00:00:00

abstract：:Deletion of the distal short arm of chromosome 9 (9p) has been reported in a number of cases to be associated with gonadal dysgenesis and XY sex reversal, suggesting that this region contains one or more genes required in two copies for normal testis development. Recent studies have greatly narrowed the interval conta...

journal_title：Human molecular genetics

authors： Raymond CS,Parker ED,Kettlewell JR,Brown LG,Page DC,Kusz K,Jaruzelska J,Reinberg Y,Flejter WL,Bardwell VJ,Hirsch B,Zarkower D

更新日期：1999-06-01 00:00:00

abstract：:Titin-truncating variants (TTNtv) are the most common genetic cause of dilated cardiomyopathy. TTNtv occur in ~1% of the general population and causes subclinical cardiac remodeling in asymptomatic carriers. In rat models with either proximal or distal TTNtv, we previously showed altered cardiac metabolism at baseline...

journal_title：Human molecular genetics

authors： Zhou J,Ng B,Ko NSJ,Fiedler LR,Khin E,Lim A,Sahib NE,Wu Y,Chothani SP,Schafer S,Bay BH,Sinha RA,Cook SA,Yen PM

更新日期：2019-06-15 00:00:00

abstract：:Mutations in the MYOC gene may lead to juvenile open-angle glaucoma with high intraocular pressure, and are detected in about 4% of people with adult onset glaucoma. Most of these mutations are found in the third exon of the gene encoding the olfactomedin-like domain located at the C terminus of the protein. Another o...

journal_title：Human molecular genetics

authors： Torrado M,Trivedi R,Zinovieva R,Karavanova I,Tomarev SI

更新日期：2002-05-15 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：: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：:Mitochondrial dysfunction plays an important role in the etiology of neurodegenerative diseases. However, the progressive nature of neuronal loss in genetic models of mitochondrial dysfunction suggests the presence of compensatory mechanisms promoting neuronal survival under these conditions. Here, we identified the e...

journal_title：Human molecular genetics

authors： Germain M,Nguyen AP,Khacho M,Patten DA,Screaton RA,Park DS,Slack RS

更新日期：2013-03-01 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：:Genome-wide association studies have identified over 150 loci associated with lipid traits, however, no large-scale studies exist for Hispanics and other minority populations. Additionally, the genetic architecture of lipid-influencing loci remains largely unknown. We performed one of the most racially/ethnically dive...

journal_title：Human molecular genetics

authors： Zubair N,Graff M,Luis Ambite J,Bush WS,Kichaev G,Lu Y,Manichaikul A,Sheu WH,Absher D,Assimes TL,Bielinski SJ,Bottinger EP,Buzkova P,Chuang LM,Chung RH,Cochran B,Dumitrescu L,Gottesman O,Haessler JW,Haiman C,Heiss

更新日期：2016-12-15 00:00:00

abstract：:Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous and can appear as syndromic or non-syndromic. Mucopolysaccharidosis type IIIC (MPS IIIC) is a lethal disorder, caused by mutations in the heparan-alpha-glucosaminide N-acetyltransferase (HGSNA...

journal_title：Human molecular genetics

authors： Haer-Wigman L,Newman H,Leibu R,Bax NM,Baris HN,Rizel L,Banin E,Massarweh A,Roosing S,Lefeber DJ,Zonneveld-Vrieling MN,Isakov O,Shomron N,Sharon D,Den Hollander AI,Hoyng CB,Cremers FP,Ben-Yosef T

更新日期：2015-07-01 00:00:00

abstract：:Single nucleotide polymorphisms (SNPs) that alter exon splicing efficiency are an emerging class of functional genetic variants. Since mutations in low-density lipoprotein receptor (LDLR) are a primary cause of familial hypercholesterolemia, we evaluated whether LDLR SNPs may alter splicing efficiency and cholesterol ...

journal_title：Human molecular genetics

authors： Zhu H,Tucker HM,Grear KE,Simpson JF,Manning AK,Cupples LA,Estus S

更新日期：2007-07-15 00:00:00

abstract：:Atopic (allergic) asthma is the most common disease of childhood and is strongly genetic in origin. Many genome-wide screens for asthma and its associated traits have now been carried out, and genetic linkage has been consistently identified in several regions. It is probable that these loci contain major genes influe...

journal_title：Human molecular genetics

authors： Cookson WO,Moffatt MF

更新日期：2000-10-01 00:00:00

abstract：:Haploinsufficiency of the single-minded homology 1 (SIM1) gene in humans and mice leads to severe obesity, suggesting that altered expression of SIM1, by way of regulatory elements such as enhancers, could predispose individuals to obesity. Here, we identified transcriptional enhancers that could regulate SIM1, using ...

journal_title：Human molecular genetics

authors： Kim MJ,Oksenberg N,Hoffmann TJ,Vaisse C,Ahituv N

更新日期：2014-04-01 00:00:00