当前位置： SCI文献检索 > HUMAN MOLECULAR GENETICS期刊下所有文献 > Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24.

Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24.

Abstract：

:Oculodentodigital syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; theta = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Gladwin A,Donnai D,Metcalfe K,Schrander-Stumpel C,Brueton L,Verloes A,Aylsworth A,Toriello H,Winter R,Dixon M

doi

10.1093/hmg/6.1.123

subject

Has Abstract

pub_date

1997-01-01 00:00:00

pages

123-7

issue

1

eissn

0964-6906

issn

1460-2083

pii

dda009

journal_volume

6

pub_type

杂志文章

相关文献

HUMAN MOLECULAR GENETICS文献大全
  • Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study.

    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

    pub_type： 杂志文章

    doi：10.1093/hmg/ddn132

    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

  • Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis.

    abstract：:Long non-coding RNAs (lncRNAs) are post-transcriptional and epigenetic regulators, whose implication in neurodegenerative and autoimmune diseases remains poorly understood. We analyzed publicly available microarray data sets to identify dysregulated lncRNAs in multiple sclerosis (MS), a neuroinflammatory autoimmune di...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddy438

    authors： Cardamone G,Paraboschi EM,Soldà G,Cantoni C,Supino D,Piccio L,Duga S,Asselta R

    更新日期：2019-05-01 00:00:00

  • Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.

    abstract：:Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodyspl...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddi001

    authors： Duchatelet S,Ostergaard E,Cortes D,Lemainque A,Julier C

    更新日期：2005-01-01 00:00:00

  • Interactome: gateway into systems biology.

    abstract：:Protein-protein interactions are fundamental to all biological processes, and a comprehensive determination of all protein-protein interactions that can take place in an organism provides a framework for understanding biology as an integrated system. The availability of genome-scale sets of cloned open reading frames ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/ddi335

    authors： Cusick ME,Klitgord N,Vidal M,Hill DE

    更新日期：2005-10-15 00:00:00

  • Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.

    abstract：:Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant disease caused by mutations in the gene encoding protein kinase C gamma (PKC gamma). We report an SCA14 family with a novel deletion of a termination-codon-containing region, resulting in a missense change and a C-terminal 13-amino-acid extension with inc...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddp298

    authors： Asai H,Hirano M,Shimada K,Kiriyama T,Furiya Y,Ikeda M,Iwamoto T,Mori T,Nishinaka K,Konishi N,Udaka F,Ueno S

    更新日期：2009-10-01 00:00:00

  • Long-term persistence of plasmid DNA and foreign gene expression in mouse muscle.

    abstract：:Plasmid pRSVL persisted and expressed luciferase for at least 19 months in mouse skeletal muscle after intramuscular injection. Other injected plasmids also stably expressed long-term suggesting that any plasmid DNA could stably persist and express in muscle. Plasmid DNA was demonstrated by quantitative PCR in some of...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/1.6.363

    authors： Wolff JA,Ludtke JJ,Acsadi G,Williams P,Jani A

    更新日期：1992-09-01 00:00:00

  • The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.

    abstract：:Mutations of mitochondrial DNA are linked to many human diseases. Despite the identification of a large number of variants in the mitochondrially encoded rRNA (mt-rRNA) genes, the evidence supporting their pathogenicity is, at best, circumstantial. Establishing the pathogenicity of these variations is of major diagnos...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt490

    authors： Smith PM,Elson JL,Greaves LC,Wortmann SB,Rodenburg RJ,Lightowlers RN,Chrzanowska-Lightowlers ZM,Taylor RW,Vila-Sanjurjo A

    更新日期：2014-02-15 00:00:00

  • The fundamental and medical impacts of recent progress in research on hereditary hearing loss.

    abstract：:What would define real progress in the field of deafness research in fundamental and medical terms? In fundamental terms, progress would be measured by an improvement in our knowledge of the development and physiology of the ear. In medical terms, progress would lead to the division of the broad category of hearing de...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/7.10.1589

    authors： Kalatzis V,Petit C

    更新日期：1998-01-01 00:00:00

  • The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis.

    abstract：:Andersen's syndrome (AS) is a rare and dominantly inherited pathology, linked to the inwardly rectifying potassium channel Kir2.1. AS patients exhibit a triad of symptoms that include periodic paralysis, cardiac dysrhythmia and bone malformations. Some progress has been made in understanding the contribution of the Ki...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu462

    authors： Sacco S,Giuliano S,Sacconi S,Desnuelle C,Barhanin J,Amri EZ,Bendahhou S

    更新日期：2015-01-15 00:00:00

  • Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.

    abstract：:Limb-girdle muscular dystrophy type 2H (LGMD2H) and sarcotubular myopathy are hereditary skeletal muscle disorders caused by mutations in TRIM32. We previously identified TRIM32 as an E3 ubiquitin ligase that binds to myosin and ubiquitinates actin. To date four TRIM32 mutations have been linked to LGMD2H, all of whic...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddp036

    authors： Kudryashova E,Wu J,Havton LA,Spencer MJ

    更新日期：2009-04-01 00:00:00

  • Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.

    abstract：:Little is known about genes regulating male puberty. Further, while many identified pubertal timing variants associate with age at menarche, a late manifestation of puberty, and body mass, little is known about these variants' relationship to pubertal initiation or tempo. To address these questions, we performed genom...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,meta分析

    doi：10.1093/hmg/ddu150

    authors： Cousminer DL,Stergiakouli E,Berry DJ,Ang W,Groen-Blokhuis MM,Körner A,Siitonen N,Ntalla I,Marinelli M,Perry JR,Kettunen J,Jansen R,Surakka I,Timpson NJ,Ring S,Mcmahon G,Power C,Wang C,Kähönen M,Viikari J,Lehtimäki

    更新日期：2014-08-15 00:00:00

  • Spinal muscular atrophy: mechanisms and therapeutic strategies.

    abstract：:Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and a leading genetic cause of infantile mortality. SMA is caused by mutation or deletion of Survival Motor Neuron-1 (SMN1). The clinical features of the disease are caused by specific degeneration of alpha-motor neurons in the spinal c...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/ddq147

    authors： Lorson CL,Rindt H,Shababi M

    更新日期：2010-04-15 00:00:00

  • The genetic landscape of infantile spasms.

    abstract：:Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients. We hypothesized that unexplained IS cases represent a large collection of rare single-gene disorders. We investigated 44 children with unexplained IS using comparative genomic hybridisation arrays (aCGH) (n = 44) ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu199

    authors： Michaud JL,Lachance M,Hamdan FF,Carmant L,Lortie A,Diadori P,Major P,Meijer IA,Lemyre E,Cossette P,Mefford HC,Rouleau GA,Rossignol E

    更新日期：2014-09-15 00:00:00

  • The selective footprints of viral pressures at the human RIG-I-like receptor family.

    abstract：:The RIG-I-like receptors (RLRs)--RIG-I, IFIH1 (or MDA5) and LGP2--are thought to be key actors in the innate immune system, as they play a major role in sensing RNA viruses in the cytosol of host cells. Despite the increasingly recognized importance of the RLR family in antiviral immunity, no population genetic studie...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr377

    authors： Vasseur E,Patin E,Laval G,Pajon S,Fornarino S,Crouau-Roy B,Quintana-Murci L

    更新日期：2011-11-15 00:00:00

  • Aneuploidy and early human embryo development.

    abstract：:Human embryo development occurs through a process that encompasses reprogramming, sequential cleavage divisions and mitotic chromosome segregation and embryonic genome activation. Chromosomal abnormalities may arise during germ cell and/or pre-implantation embryo development, and are a major cause of spontaneous misca...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/ddn170

    authors： Ambartsumyan G,Clark AT

    更新日期：2008-04-15 00:00:00

  • Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1).

    abstract：:Niemann-Pick C1 (NPC1) disease is a rare, neurodegenerative lysosomal cholesterol storage disorder, typified by progressive cognitive and motor function impairment. Affected individuals usually succumb to the disease in adolescence. 2-Hydroxypropyl-β-cyclodextrin (HP-β-CD) has emerged as a promising intervention that ...

    journal_title：Human molecular genetics

    pub_type： 临床试验,杂志文章

    doi：10.1093/hmg/ddu331

    authors： Tortelli B,Fujiwara H,Bagel JH,Zhang J,Sidhu R,Jiang X,Yanjanin NM,Shankar RK,Carillo-Carasco N,Heiss J,Ottinger E,Porter FD,Schaffer JE,Vite CH,Ory DS

    更新日期：2014-11-15 00:00:00

  • Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.

    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

    pub_type： 杂志文章

    doi：10.1093/hmg/10.11.1177

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

    更新日期：2001-05-15 00:00:00

  • Reactivation of the silenced and imprinted alleles of ARHI is associated with increased histone H3 acetylation and decreased histone H3 lysine 9 methylation.

    abstract：:ARHI has been identified as a maternally imprinted tumor suppressor gene that maps to chromosome 1p31 and whose expression is markedly down-regulated in breast cancer. To explore possible mechanisms that could silence ARHI expression, we have tested the importance of DNA methylation, histone acetylation and histone me...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddg204

    authors： Fujii S,Luo RZ,Yuan J,Kadota M,Oshimura M,Dent SR,Kondo Y,Issa JP,Bast RC Jr,Yu Y

    更新日期：2003-08-01 00:00:00

  • The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator.

    abstract：:Functional impairment of the human homeobox gene SHOX causes short stature and Madelung deformity in Leri-Weill syndrome (LWS) and has recently been implicated in additional skeletal malformations frequently observed in Turner syndrome. To enhance our understanding of the underlying mechanism of action, we have establ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/10.26.3083

    authors： Rao E,Blaschke RJ,Marchini A,Niesler B,Burnett M,Rappold GA

    更新日期：2001-12-15 00:00:00

  • Utrophin A is essential in mediating the functional adaptations of mdx mouse muscle following chronic AMPK activation.

    abstract：:Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin along muscle fibers. An attractive therapeutic avenue for DMD consists in the upregulation of utrophin A, a protein with high sequence identity and functional redundancy with dystrophin. Recent work has shown that pharmacological interventions th...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu535

    authors： Al-Rewashdy H,Ljubicic V,Lin W,Renaud JM,Jasmin BJ

    更新日期：2015-03-01 00:00:00

  • The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract.

    abstract：:Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease caused by the expansion of a polyglutamine tract within the SCA1 product, ataxin-1. Previously, using transgenic mice, it was demonstrated that in order for a mutant allele of ataxin-1 to cause disease it must be transported to the...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/10.1.25

    authors： Yue S,Serra HG,Zoghbi HY,Orr HT

    更新日期：2001-01-01 00:00:00

  • Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.

    abstract：:Mutation in a growing spectrum of genes is known to either cause or contribute to primary or secondary microcephaly. In primary microcephaly the genetic determinants frequently involve mutations that contribute to or modulate the microtubule cytoskeleton by causing perturbations of neuronal proliferation and migration...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddw292

    authors： Edvardson S,Tian G,Cullen H,Vanyai H,Ngo L,Bhat S,Aran A,Daana M,Da'amseh N,Abu-Libdeh B,Cowan NJ,Heng JI,Elpeleg O

    更新日期：2016-11-01 00:00:00

  • The Menkes copper transporter is required for the activation of tyrosinase.

    abstract：:Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A (MNK) gene. The MNK gene encodes a copper-transporting P-type ATPase, MNK, which is localized predominantly in the trans-Golgi network (TGN). The MNK protein relocates to the plasma membrane in cells exposed to elevated...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/9.19.2845

    authors： Petris MJ,Strausak D,Mercer JF

    更新日期：2000-11-22 00:00:00

  • SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells.

    abstract：:Glucocorticoids are beneficial in Duchenne muscular dystrophy (DMD). Osteopontin (OPN), the protein product of SPP1, plays a role in DMD pathology modulating muscle inflammation and regeneration. A polymorphism in the SPP1 promoter (rs28357094) has been recognized as a genetic modifier of DMD, and there is evidence su...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddx218

    authors： Vianello S,Pantic B,Fusto A,Bello L,Galletta E,Borgia D,Gavassini BF,Semplicini C,Sorarù G,Vitiello L,Pegoraro E

    更新日期：2017-09-01 00:00:00

  • A CTCF-binding silencer regulates the imprinted genes AWT1 and WT1-AS and exhibits sequential epigenetic defects during Wilms' tumourigenesis.

    abstract：:We have shown previously that AWT1 and WT1-AS are functionally imprinted in human kidney. In the adult kidney, expression of both transcripts is restricted to the paternal allele, with the silent maternal allele retaining methylation at the WT1 antisense regulatory region (WT1 ARR). Here, we report characterization of...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddl478

    authors： Hancock AL,Brown KW,Moorwood K,Moon H,Holmgren C,Mardikar SH,Dallosso AR,Klenova E,Loukinov D,Ohlsson R,Lobanenkov VV,Malik K

    更新日期：2007-02-01 00:00:00

  • Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle.

    abstract：:Homozygous inv mice lack a functional inversin protein and exhibit situs inversus plus severe cystic changes in the kidney and pancreas. Although the inversin sequence has provided few clues to its function, we and others have previously identified calmodulin as a binding partner. We now provide evidence that inversin...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/11.26.3345

    authors： Morgan D,Eley L,Sayer J,Strachan T,Yates LM,Craighead AS,Goodship JA

    更新日期：2002-12-15 00:00:00

  • The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.

    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

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr425

    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

  • Ca2+-permeable TRPV1 pain receptor knockout rescues memory deficits and reduces amyloid-β and tau in a mouse model of Alzheimer's disease.

    abstract：:The transient receptor potential vanilloid 1 (TRPV1) protein is a pain receptor that elicits a hot sensation when an organism eats the capsaicin of red chili peppers. This calcium (Ca2+)-permeable cation channel is mostly expressed in the peripheral nervous system sensory neurons but also in the central nervous system...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddz276

    authors： Kim J,Lee S,Kim J,Ham S,Park JHY,Han S,Jung YK,Shim I,Han JS,Lee KW,Kim J

    更新日期：2020-01-15 00:00:00

  • Glutaredoxin deficiency exacerbates neurodegeneration in C. elegans models of Parkinson's disease.

    abstract：:Parkinson's disease (PD) is characterized by selective degeneration of dopaminergic neurons. Although the etiology of PD remains incompletely understood, oxidative stress has been implicated as an important contributor in the development of PD. Oxidative stress can lead to oxidation and functional perturbation of prot...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu542

    authors： Johnson WM,Yao C,Siedlak SL,Wang W,Zhu X,Caldwell GA,Wilson-Delfosse AL,Mieyal JJ,Chen SG

    更新日期：2015-03-01 00:00:00

  • Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.

    abstract：:The quakingviable mouse (qkv) is a spontaneous recessive mouse mutant with a deletion of approximately 1.1 Mb in the proximal region of chromosome 17. The deletion affects the expression of three genes; quaking (Qk), Parkin-coregulated gene (Pacrg) and parkin (Park2). The resulting phenotype, which includes dysmyelina...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddq031

    authors： Wilson GR,Wang HX,Egan GF,Robinson PJ,Delatycki MB,O'Bryan MK,Lockhart PJ

    更新日期：2010-04-15 00:00:00