当前位置： SCI文献检索 > HUMAN MOLECULAR GENETICS期刊下所有文献 > A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

Abstract：

:We report the case of a consanguineous couple who lost four pregnancies associated with skeletal dysplasia. Radiological examination of one fetus was inconclusive. Parental exome sequencing showed that both parents were heterozygous for a novel missense variant, p.(Pro133Leu), in the SLC35D1 gene encoding a nucleotide sugar transporter. The affected fetus was homozygous for the variant. The radiological features were reviewed, and being similar, but atypical, the phenotype was classified as a 'Schneckenbecken-like dysplasia.' The effect of the missense change was assessed using protein modelling techniques and indicated alterations in the mouth of the solute channel. A detailed biochemical investigation of SLC35D1 transport function and that of the missense variant p.(Pro133Leu) revealed that SLC35D1 acts as a general UDP-sugar transporter and that the p.(Pro133Leu) mutation resulted in a significant decrease in transport activity. The reduced transport activity observed for p.(Pro133Leu) was contrasted with in vitro activity for SLC35D1 p.(Thr65Pro), the loss-of-function mutation was associated with Schneckenbecken dysplasia. The functional classification of SLC35D1 as a general nucleotide sugar transporter of the endoplasmic reticulum suggests an expanded role for this transporter beyond chondroitin sulfate biosynthesis to a variety of important glycosylation reactions occurring in the endoplasmic reticulum.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Rautengarten C,Quarrell OW,Stals K,Caswell RC,De Franco E,Baple E,Burgess N,Jokhi R,Heazlewood JL,Offiah AC,Ebert B,Ellard S

doi

10.1093/hmg/ddz200

subject

Has Abstract

pub_date

2019-11-01 00:00:00

pages

3543-3551

issue

21

eissn

0964-6906

issn

1460-2083

pii

5551101

journal_volume

28

pub_type

杂志文章

相关文献

HUMAN MOLECULAR GENETICS文献大全
  • Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.

    abstract：:Peroxisome biogenesis disorders, including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease, are lethal hereditary diseases caused by abnormalities in peroxisomal assembly. To date, 12 genotypes have been identified. We now have evidence that the complete human cDNA encoding P...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/8.6.1077

    authors： Shimozawa N,Suzuki Y,Zhang Z,Imamura A,Toyama R,Mukai S,Fujiki Y,Tsukamoto T,Osumi T,Orii T,Wanders RJ,Kondo N

    更新日期：1999-06-01 00:00:00

  • Compromised paraspeckle formation as a pathogenic factor in FUSopathies.

    abstract：:Paraspeckles are nuclear bodies formed by a set of specialized proteins assembled on the long non-coding RNA NEAT1; they have a role in nuclear retention of hyperedited transcripts and are associated with response to cellular stress. Fused in sarcoma (FUS) protein, linked to a number of neurodegenerative disorders, is...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt622

    authors： Shelkovnikova TA,Robinson HK,Troakes C,Ninkina N,Buchman VL

    更新日期：2014-05-01 00:00:00

  • Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region.

    abstract：:We have constructed a long-range restriction map of the region on chromosome 4q that contains the gene for facioscapulohumeral muscular dystrophy (FSHD). This region contains the linkage group cen ... D4S163-D4S139-D4F35S1-D4F104S1-FSHD ... 4qter, which spans a genetic distance of about 5 cM. Pulse field gel electroph...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/2.10.1667

    authors： Wijmenga C,Wright TJ,Baan MJ,Padberg GW,Williamson R,van Ommen GJ,Hewitt JE,Hofker MH,Frants RR

    更新日期：1993-10-01 00:00:00

  • Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families.

    abstract：:Parkinson disease (PD) is the second most common neurodegenerative disorder. We studied 754 affected individuals, comprising 425 sibling pairs, to identify PD susceptibility genes. Screening of the parkin gene was performed in a subset of the sample having earlier age of PD onset or a positive LOD score with a marker ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddg270

    authors： Pankratz N,Nichols WC,Uniacke SK,Halter C,Murrell J,Rudolph A,Shults CW,Conneally PM,Foroud T,Parkinson Study Group.

    更新日期：2003-10-15 00:00:00

  • Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy.

    abstract：:The childhood motor neuron disease spinal muscular atrophy (SMA) results from reduced expression of the survival motor neuron (SMN) gene. Previous studies using in vitro model systems and lower organisms have suggested that low levels of Smn protein disrupt prenatal developmental processes in lower motor neurons, infl...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddp506

    authors： Murray LM,Lee S,Bäumer D,Parson SH,Talbot K,Gillingwater TH

    更新日期：2010-02-01 00:00:00

  • A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region.

    abstract：:The minibrain (mnb) gene of Drosophila melanogaster encodes a serine-threonine protein kinase with an essential role in postembryonic neurogenesis. A corresponding human gene with similar function to mnb could provide important insights into both normal brain development and the abnormal brain development and mental r...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/5.9.1305

    authors： Guimerá J,Casas C,Pucharcòs C,Solans A,Domènech A,Planas AM,Ashley J,Lovett M,Estivill X,Pritchard MA

    更新日期：1996-09-01 00:00:00

  • Downstream targets of GWAS-detected genes for breast, lung, and prostate and colon cancer converge to G1/S transition pathway.

    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

    pub_type： 杂志文章

    doi：10.1093/hmg/ddx050

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

    更新日期：2017-04-15 00:00:00

  • A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population.

    abstract：:The CCG rich sequence immediately 3' to the CAG repeat that is expanded in Huntington's disease (HD) has recently been shown to be polymorphic with at least 4 alleles differing by multiples of 3 bp being found in the normal population. We have studied the allele distribution in 180 HD families resident in Scotland and...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/3.1.173

    authors： Barron LH,Rae A,Holloway S,Brock DJ,Warner JP

    更新日期：1994-01-01 00:00:00

  • Prdm1 functions in the mesoderm of the second heart field, where it interacts genetically with Tbx1, during outflow tract morphogenesis in the mouse embryo.

    abstract：:Congenital heart defects affect at least 0.8% of newborn children and are a major cause of lethality prior to birth. Malformations of the arterial pole are particularly frequent. The myocardium at the base of the pulmonary trunk and aorta and the arterial tree associated with these great arteries are derived from spla...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu232

    authors： Vincent SD,Mayeuf-Louchart A,Watanabe Y,Brzezinski JA 4th,Miyagawa-Tomita S,Kelly RG,Buckingham M

    更新日期：2014-10-01 00:00:00

  • An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

    abstract：:Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels. Recently, mutations in the GALNT3 gene have been described to cause FTC. The FTC phenotype is regarded as the metabolic mirror image of hypophosphatemic conditions, where ca...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddi034

    authors： Benet-Pagès A,Orlik P,Strom TM,Lorenz-Depiereux B

    更新日期：2005-02-01 00:00:00

  • The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion.

    abstract：:Retinoblastoma is a non-hereditary as well as an inherited pediatric tumor of the developing retina resulting from the inactivation of both copies of the RB1 tumor suppressor gene. Familial retinoblastoma is a highly penetrant genetic disease that usually develops by carrying germline mutations that inactivate one all...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu245

    authors： Dehainault C,Garancher A,Castéra L,Cassoux N,Aerts I,Doz F,Desjardins L,Lumbroso L,Montes de Oca R,Almouzni G,Stoppa-Lyonnet D,Pouponnot C,Gauthier-Villars M,Houdayer C

    更新日期：2014-10-01 00:00:00

  • Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.

    abstract：:Protein translation is an essential cellular process initiated by the association of a methionyl-tRNA with the translation initiation factor eIF2. The Met-tRNA/eIF2 complex then associates with the small ribosomal subunit, other translation factors and mRNA, which together comprise the translational initiation complex...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddv337

    authors： Kernohan KD,Tétreault M,Liwak-Muir U,Geraghty MT,Qin W,Venkateswaran S,Davila J,Care4Rare Canada Consortium.,Holcik M,Majewski J,Richer J,Boycott KM

    更新日期：2015-11-15 00:00:00

  • Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia.

    abstract：:Typically, autosomal dominant familial hypercholesterolaemia (FH) is caused by mutations in the low density lipoprotein (LDL) receptor or apolipoprotein B genes that result in defective clearance of plasma LDL by the liver, but a third gene (PCSK9), encoding a putative proprotein convertase, has recently been implicat...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddi128

    authors： Sun XM,Eden ER,Tosi I,Neuwirth CK,Wile D,Naoumova RP,Soutar AK

    更新日期：2005-05-01 00:00:00

  • Systemic transplantation of c-kit+ cells exerts a therapeutic effect in a model of amyotrophic lateral sclerosis.

    abstract：:Amyotrophic lateral sclerosis (ALS) is a progressive, fatal, neurodegenerative disease characterized by the loss of motor neurons. Motor neuron degeneration is probably both a cell autonomous and a non-autonomous event. Therefore, manipulating the diseased microenvironment via non-neural cell replacement could be a th...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddq293

    authors： Corti S,Nizzardo M,Nardini M,Donadoni C,Salani S,Simone C,Falcone M,Riboldi G,Govoni A,Bresolin N,Comi GP

    更新日期：2010-10-01 00:00:00

  • Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

    abstract：:Germline mutations in LKB1 have been reported to underlie familial Peutz-Jeghers syndrome (PJS) with intestinal hamartomatous polyps and an elevated risk of various neoplasms. To investigate the prevalence of LKB1 germline mutations in PJS more generally, we studied samples from 33 unrelated PJS patients including eig...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/8.1.45

    authors： Ylikorkala A,Avizienyte E,Tomlinson IP,Tiainen M,Roth S,Loukola A,Hemminki A,Johansson M,Sistonen P,Markie D,Neale K,Phillips R,Zauber P,Twama T,Sampson J,Järvinen H,Mäkelä TP,Aaltonen LA

    更新日期：1999-01-01 00:00:00

  • The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

    abstract：:Recent genome-wide association studies (GWAS) have identified a number of novel genetic associations with complex human diseases. In spite of these successes, results from GWAS generally explain only a small proportion of disease heritability, an observation termed the 'missing heritability problem'. Several sources f...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/dds021

    authors： Cusanovich DA,Billstrand C,Zhou X,Chavarria C,De Leon S,Michelini K,Pai AA,Ober C,Gilad Y

    更新日期：2012-05-01 00:00:00

  • Strategies to prevent cleavage of the linker region between ligand-binding repeats 4 and 5 of the LDL receptor.

    abstract：:A main strategy for lowering plasma low-density lipoprotein (LDL) cholesterol levels is to increase the number of cell-surface LDL receptors (LDLRs). This can be achieved by increasing the synthesis or preventing the degradation of the LDLR. One mechanism by which an LDLR becomes non-functional is enzymatic cleavage w...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddz164

    authors： Strøm TB,Bjune K,Costa LTD,Leren TP

    更新日期：2019-11-15 00:00:00

  • Decreased turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35.

    abstract：:Spastic paraplegia 35 (SPG35) (OMIM: 612319) or fatty acid hydroxylase-associated neurodegeneration (FAHN) is caused by deficiency of fatty acid 2-hydroxylase (FA2H). This enzyme synthesizes sphingolipids containing 2-hydroxylated fatty acids, which are particularly abundant in myelin. Fa2h-deficient (Fa2h-/-) mice de...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddaa246

    authors： Hardt R,Jordans S,Winter D,Gieselmann V,Wang-Eckhardt L,Eckhardt M

    更新日期：2021-01-21 00:00:00

  • Human renin binding protein: complete genomic sequence and association of an intronic T/C polymorphism with the prorenin level in males.

    abstract：:The role of renin binding protein (RnBP) in human (patho)physiology, despite its biochemical characterization, is as yet unclear. RnBP has been shown to bind and inactivate renin, a key player of the blood pressure regulating renin-angiotensin system. This renders the RnBP gene a promising candidate gene in human hype...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/6.9.1527

    authors： Knöll A,Schunkert H,Reichwald K,Danser AH,Bauer D,Platzer M,Stein G,Rosenthal A

    更新日期：1997-09-01 00:00:00

  • DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.

    abstract：:The DNA mismatch repair genes MSH2 and MLH1 have been shown to account for a major share of hereditary non-polyposis colorectal cancer (HNPCC). We searched for germline mutations in these genes in 35 HNPCC kindreds fulfilling the Amsterdam diagnostic criteria and in a further 20 kindreds with an average of four affect...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/5.6.763

    authors： Nyström-Lahti M,Wu Y,Moisio AL,Hofstra RM,Osinga J,Mecklin JP,Järvinen HJ,Leisti J,Buys CH,de la Chapelle A,Peltomäki P

    更新日期：1996-06-01 00:00:00

  • ES cell differentiation system recapitulates the establishment of imprinted gene expression in a cell-type-specific manner.

    abstract：:Genomic imprinting is a phenomenon whereby monoallelic gene expression occurs in a parent-of-origin-specific manner. A subset of imprinted genes acquires a tissue-specific imprinted status during the course of tissue development, and this process can be analyzed by means of an in vitro differentiation system utilizing...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr577

    authors： Kohama C,Kato H,Numata K,Hirose M,Takemasa T,Ogura A,Kiyosawa H

    更新日期：2012-03-15 00:00:00

  • Identification and analysis of large intergenic non-coding RNAs regulated by p53 family members through a genome-wide analysis of p53-binding sites.

    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

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt673

    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

  • MAP2K3 is associated with body mass index in American Indians and Caucasians and may mediate hypothalamic inflammation.

    abstract：:To identify genes that affect body mass index (BMI) in American Indians who are predominately of Pima Indian heritage, we previously completed a genome-wide association study in 1120 American Indians. That study also included follow-up genotyping for 9 SNPs in 2133 additional subjects. A comprehensive follow-up study ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt291

    authors： Bian L,Traurig M,Hanson RL,Marinelarena A,Kobes S,Muller YL,Malhotra A,Huang K,Perez J,Gale A,Knowler WC,Bogardus C,Baier LJ

    更新日期：2013-11-01 00:00:00

  • Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy.

    abstract：:Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however, preclinical and clinical studies revealed a limited therapeutic time window and systemic aspects of the disease. This raises a fundamental question of ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddaa146

    authors： Motyl AAL,Faller KME,Groen EJN,Kline RA,Eaton SL,Ledahawsky LM,Chaytow H,Lamont DJ,Wishart TM,Huang YT,Gillingwater TH

    更新日期：2020-09-29 00:00:00

  • Negative evidence for a role of APH1B T27I variant in Alzheimer's disease.

    abstract：:γ-secretase is a macromolecular complex that catalyzes intramembranous hydrolysis of more than 100 membrane-bound substrates. The complex is composed of presenilin (PS1 or PS2), anterior pharynx defect-1 (APH-1), nicastrin (NCT) and PEN-2 and early-onset; autosomal dominant forms of Alzheimer's disease (AD) are caused...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddaa017

    authors： Zhang X,Zhang C,Prokopenko D,Liang Y,Han W,Tanzi RE,Sisodia SS

    更新日期：2020-04-15 00:00:00

  • Cytoglobin has bimodal: tumour suppressor and oncogene functions in lung cancer cell lines.

    abstract：:Cytoglobin (CYGB) is frequently downregulated in many types of human malignancies, and its exogenous overexpression reduces proliferation of cancer cells. Despite its implied tumour suppressor (TSG) functions, its exact role in carcinogenesis remains unclear as CYGB upregulation is also associated with tumour hypoxia ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt174

    authors： Oleksiewicz U,Liloglou T,Tasopoulou KM,Daskoulidou N,Bryan J,Gosney JR,Field JK,Xinarianos G

    更新日期：2013-08-15 00:00:00

  • Chromosome-specific accumulation of aneuploidy in the aging mouse brain.

    abstract：:Chromosomal aneuploidy, the gain or loss of whole chromosomes, is a hallmark of pathological conditions and a causal factor of birth defects and cancer. A number of studies indicate that aneuploid cells are present at a high frequency in the brain of mice and humans, suggesting that mosaic aneuploidies are compatible ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/dds375

    authors： Faggioli F,Wang T,Vijg J,Montagna C

    更新日期：2012-12-15 00:00:00

  • From enhanceropathies to the epigenetic manifold underlying human cognition.

    abstract：:A vast portion of intellectual disability and autism spectrum disorders is genetically caused by mutations in chromatin modulators. These proteins play key roles in development and are also highly expressed in the adult brain. Specifically, the pivotal role of chromatin regulation in transcription has placed enhancers...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/ddz196

    authors： Vitriolo A,Gabriele M,Testa G

    更新日期：2019-11-21 00:00:00

  • New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

    abstract：:Retinitis pigmentosa (RP), a genetically heterogeneous group of retinopathies that occur in both non-syndromic and syndromic forms, is caused by mutations in ∼100 genes. Although recent advances in next-generation sequencing have aided in the discovery of novel RP genes, a number of the underlying contributing genes a...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu291

    authors： Xie YA,Lee W,Cai C,Gambin T,Nõupuu K,Sujirakul T,Ayuso C,Jhangiani S,Muzny D,Boerwinkle E,Gibbs R,Greenstein VC,Lupski JR,Tsang SH,Allikmets R

    更新日期：2014-11-01 00:00:00

  • Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein.

    abstract：:Expression of misfolded protein in cultured cells frequently leads to the formation of juxtanuclear inclusions that have been termed 'aggresomes'. Aggresome formation is an active cellular response that involves trafficking of the offending protein along microtubules, reorganization of intermediate filaments and recru...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddg074

    authors： Taylor JP,Tanaka F,Robitschek J,Sandoval CM,Taye A,Markovic-Plese S,Fischbeck KH

    更新日期：2003-04-01 00:00:00