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[PMID]:29178640
[Au] Autor:Sukalo M; Schäflein E; Schanze I; Everman DB; Rezaei N; Argente J; Lorda-Sanchez I; Deshpande C; Takahashi T; Kleger A; Zenker M
[Ad] Endereço:Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
[Ti] Título:Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
[So] Source:Mol Genet Genomic Med;5(6):774-780, 2017 11.
[Is] ISSN:2324-9269
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pathway. METHODS: Molecular findings in a total of 65 unrelated patients with a clinical diagnosis of JBS who were previously screened for UBR1 mutations by Sanger sequencing were reviewed and cases lacking a disease-causing UBR1 mutation on either one or both alleles were included in this study. In order to discover mutations that are not detectable by Sanger sequencing, we designed a probe set for multiplex ligation-dependent probe amplification (MLPA) analysis of the UBR1 gene and analyzed the copy number status of all 47 UBR1 exons. RESULTS: Our previous studies using Sanger sequencing could detect mutations in 93.1% of 130 disease-associated UBR1 alleles. Six patients with a highly suggestive clinical diagnosis of JBS and unsolved genotype were included in this study. MLPA analysis detected six alleles harboring exon deletions/duplications, thereby raising the mutation detection rate in the entire cohort to 97.7% (127/130 alleles). CONCLUSION: We conclude that single or multi-exon deletions or duplications account for a substantial proportion of JBS-associated UBR1 mutations.
[Mh] Termos MeSH primário: Anus Imperfurado/genética
Displasia Ectodérmica/genética
Transtornos do Crescimento/genética
Perda Auditiva Neurossensorial/genética
Hipotireoidismo/genética
Deficiência Intelectual/genética
Nariz/anormalidades
Pancreatopatias/genética
Ubiquitina-Proteína Ligases/genética
[Mh] Termos MeSH secundário: Adulto
Alelos
Anus Imperfurado/diagnóstico
Sequência de Bases
Criança
Pré-Escolar
DNA/química
DNA/isolamento & purificação
DNA/metabolismo
Análise Mutacional de DNA
Displasia Ectodérmica/diagnóstico
Éxons
Feminino
Deleção de Genes
Duplicação Gênica
Genótipo
Transtornos do Crescimento/diagnóstico
Perda Auditiva Neurossensorial/diagnóstico
Seres Humanos
Hipotireoidismo/diagnóstico
Deficiência Intelectual/diagnóstico
Masculino
Reação em Cadeia da Polimerase Multiplex
Pancreatopatias/diagnóstico
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
9007-49-2 (DNA); EC 2.3.2.27 (UBR1 protein, human); EC 2.3.2.27 (Ubiquitin-Protein Ligases)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1002/mgg3.319


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[PMID]:29186264
[Au] Autor:Sanches S; Rebellato PRO; Fabre AB; Campos GLM
[Ad] Endereço:Dermatology Outpatient Clinic, Hospital Universitário Evangélico de Curitiba, Faculdade Evangélica do Paraná (HUEC-FEPAR) - Curitiba (PR) Brazil.
[Ti] Título:Do you know this syndrome? Clouston syndrome.
[So] Source:An Bras Dermatol;92(3):417-418, 2017 May-Jun.
[Is] ISSN:1806-4841
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The nails become thickened and dystrophic, which is an essential characteristic of the syndrome. The diagnosis is made based on clinical findings. This study reports a case of a patient who began with changes in hair, nails and palmoplantar keratoderma in early childhood.
[Mh] Termos MeSH primário: Displasia Ectodérmica/diagnóstico
Ceratodermia Palmar e Plantar/diagnóstico
Doenças da Unha/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Feminino
Seres Humanos
Síndrome
[Pt] Tipo de publicação:CASE REPORTS
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180131
[Lr] Data última revisão:
180131
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171130
[St] Status:MEDLINE


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[PMID]:28778864
[Au] Autor:Kuehn HS; Niemela JE; Sreedhara K; Stoddard JL; Grossman J; Wysocki CA; de la Morena MT; Garofalo M; Inlora J; Snyder MP; Lewis DB; Stratakis CA; Fleisher TA; Rosenzweig SD
[Ad] Endereço:Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.
[Ti] Título:Novel nonsense gain-of-function mutations associated with a combined immunodeficiency phenotype.
[So] Source:Blood;130(13):1553-1564, 2017 Sep 28.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:NF-κB signaling through its -dependent canonical and -dependent noncanonical pathways plays distinctive roles in a diverse range of immune processes. Recently, mutations in these 2 genes have been associated with common variable immunodeficiency (CVID). While studying patients with genetically uncharacterized primary immunodeficiencies, we detected 2 novel nonsense gain-of-function (GOF) mutations (E418X and R635X) in 3 patients from 2 families, and a novel missense change (S866R) in another patient. Their immunophenotype was assessed by flow cytometry and protein expression; activation of canonical and noncanonical pathways was examined in peripheral blood mononuclear cells and transfected HEK293T cells through immunoblotting, immunohistochemistry, luciferase activity, real-time polymerase chain reaction, and multiplex assays. The S866R change disrupted a C-terminal NF-κΒ2 critical site affecting protein phosphorylation and nuclear translocation, resulting in CVID with adrenocorticotropic hormone deficiency, growth hormone deficiency, and mild ectodermal dysplasia as previously described. In contrast, the nonsense mutations E418X and R635X observed in 3 patients led to constitutive nuclear localization and activation of both canonical and noncanonical NF-κΒ pathways, resulting in a combined immunodeficiency (CID) without endocrine or ectodermal manifestations. These changes were also found in 2 asymptomatic relatives. Thus, these novel GOF mutations produce a nonfully penetrant CID phenotype through a different pathophysiologic mechanism than previously described for mutations in .
[Mh] Termos MeSH primário: Códon sem Sentido
Subunidade p52 de NF-kappa B/genética
Imunodeficiência Combinada Severa/genética
[Mh] Termos MeSH secundário: Insuficiência Adrenal/genética
Imunodeficiência de Variável Comum/genética
Displasia Ectodérmica/genética
Hormônio do Crescimento/deficiência
Células HEK293
Seres Humanos
Mutação de Sentido Incorreto
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); 0 (NF-kappa B p52 Subunit); 0 (NFKB2 protein, human); 9002-72-6 (Growth Hormone)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170806
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2017-05-782177


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[PMID]:28768473
[Au] Autor:Agerholm JS; McEvoy FJ; Heegaard S; Charlier C; Jagannathan V; Drögemüller C
[Ad] Endereço:Department of Clinical Veterinary Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Dyrlægevej 16, 1870, Frederiksberg C, DK, Denmark. jager@sund.ku.dk.
[Ti] Título:A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.
[So] Source:BMC Genet;18(1):74, 2017 Aug 02.
[Is] ISSN:1471-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. RESULTS: Seven malformed calves were submitted examination. All cases shared a common morphology with the most striking lesions being severe facial dysplasia and complete prolapse of the eyes. Consequently the syndrome was named facial dysplasia syndrome (FDS). Furthermore, extensive brain malformations, including microencephaly, hydrocephalus, lobation of the cerebral hemispheres and compression of the brain were present. Subsequent data analysis of progeny of the sire revealed that around 0.5% of his offspring suffered from FDS. High density single nucleotide polymorphism (SNP) genotyping data of the seven cases and their parents were used to map the defect in the bovine genome. Significant genetic linkage was obtained for three regions, including chromosome 26 where whole genome sequencing of a case-parent trio revealed two de novo variants perfectly associated with the disease: an intronic SNP in the DMBT1 gene and a single non-synonymous variant in the FGFR2 gene. This FGFR2 missense variant (c.927G>T) affects a gene encoding a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and across species. It is predicted to change an evolutionary conserved tryptophan into a cysteine residue (p.Trp309Cys). Both variant alleles were proven to result from de novo mutation events in the germline of the sire. CONCLUSIONS: FDS is a novel genetic disorder of Holstein cattle. Mutations in the human FGFR2 gene are associated with various dominant inherited craniofacial dysostosis syndromes. Given the phenotypic similarities in FDS affected calves, the genetic mapping and absence of further high impact variants in the critical genome regions, it is highly likely that the missense mutation in the FGFR2 gene caused the FDS phenotype in a dominant mode of inheritance.
[Mh] Termos MeSH primário: Doenças dos Bovinos/genética
Displasia Ectodérmica/veterinária
Mutação de Sentido Incorreto
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Animais
Bovinos
Displasia Ectodérmica/genética
Feminino
Genes Dominantes
Masculino
Linhagem
Fenótipo
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/química
Homologia de Sequência
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 2)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170804
[St] Status:MEDLINE
[do] DOI:10.1186/s12863-017-0541-3


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[PMID]:28594414
[Au] Autor:Altmüller F; Lissewski C; Bertola D; Flex E; Stark Z; Spranger S; Baynam G; Buscarilli M; Dyack S; Gillis J; Yntema HG; Pantaleoni F; van Loon RL; MacKay S; Mina K; Schanze I; Tan TY; Walsh M; White SM; Niewisch MR; García-Miñaúr S; Plaza D; Ahmadian MR; Cavé H; Tartaglia M; Zenker M
[Ad] Endereço:Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
[Ti] Título:Genotype and phenotype spectrum of NRAS germline variants.
[So] Source:Eur J Hum Genet;25(7):823-831, 2017 Jun.
[Is] ISSN:1476-5438
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly conserved RAS-MAPK signalling pathway that lead to dysregulation of cell signal transmission. Germline changes in the genes encoding members of the RAS subfamily of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants) to Noonan and Cardiofaciocutaneous syndromes (KRAS variants). A small number of RASopathy cases with disease-causing germline NRAS alterations have been reported. Affected individuals exhibited features fitting Noonan syndrome, and the observed germline variants differed from the typical oncogenic NRAS changes occurring as somatic events in tumours. Here we describe 19 new cases with RASopathy due to disease-causing variants in NRAS. Importantly, four of them harbored missense changes affecting Gly12, which was previously described to occur exclusively in cancer. The phenotype in our cohort was variable but well within the RASopathy spectrum. Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour. With this report, we expand the genotype and phenotype spectrum of RASopathy-associated germline NRAS variants and provide evidence that NRAS variants do not spare the cancer-associated mutation hotspots.
[Mh] Termos MeSH primário: Síndrome de Costello/genética
Displasia Ectodérmica/genética
Insuficiência de Crescimento/genética
GTP Fosfo-Hidrolases/genética
Mutação em Linhagem Germinativa
Cardiopatias Congênitas/genética
Proteínas de Membrana/genética
Síndrome de Noonan/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Síndrome de Costello/patologia
Displasia Ectodérmica/patologia
Facies
Insuficiência de Crescimento/patologia
Feminino
Genótipo
Cardiopatias Congênitas/patologia
Seres Humanos
Lactente
Recém-Nascido
Masculino
Mutação de Sentido Incorreto
Síndrome de Noonan/patologia
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Proteins); EC 3.6.1.- (GTP Phosphohydrolases); EC 3.6.1.- (NRAS protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170609
[St] Status:MEDLINE
[do] DOI:10.1038/ejhg.2017.65


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[PMID]:28576536
[Au] Autor:Holcomb MA; Rizk HG; Morris NS; Meyer TA
[Ad] Endereço:Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, United States. Electronic address: holcombm@musc.edu.
[Ti] Título:Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome.
[So] Source:Int J Pediatr Otorhinolaryngol;95:69-71, 2017 Apr.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:Sensorineural hearing loss (SNHL) occurs in more than 80% of cases of Johanson Blizzard Syndrome (JBS). However, limited knowledge exists in medical literature of cochlear implantation (CI) outcomes in children with JBS. We report the case of a 5 year-old male with JBS and bilateral CI. While minimal progress in spoken language scores was noted after 4 years of bilateral CI use, substantial improvements in discrimination of speech sounds and audibility of spoken language and environmental sounds were documented. Cochlear implantation is an available treatment option of profound SNHL in children with JBS even if spoken language outcomes are marginal.
[Mh] Termos MeSH primário: Anus Imperfurado/cirurgia
Implante Coclear/métodos
Displasia Ectodérmica/cirurgia
Transtornos do Crescimento/cirurgia
Perda Auditiva Neurossensorial/cirurgia
Hipotireoidismo/cirurgia
Deficiência Intelectual/cirurgia
Nariz/anormalidades
Pancreatopatias/cirurgia
[Mh] Termos MeSH secundário: Anus Imperfurado/complicações
Pré-Escolar
Implantes Cocleares
Displasia Ectodérmica/complicações
Transtornos do Crescimento/complicações
Perda Auditiva Neurossensorial/complicações
Perda Auditiva Neurossensorial/etiologia
Seres Humanos
Hipotireoidismo/complicações
Deficiência Intelectual/complicações
Masculino
Nariz/cirurgia
Pancreatopatias/complicações
Percepção da Fala
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170604
[St] Status:MEDLINE


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[PMID]:28512196
[Au] Autor:Masek J; Andersson ER
[Ad] Endereço:Karolinska Institutet, Huddinge 14183, Sweden.
[Ti] Título:The developmental biology of genetic Notch disorders.
[So] Source:Development;144(10):1743-1763, 2017 05 15.
[Is] ISSN:1477-9129
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function results in Hajdu-Cheney syndrome, serpentine fibula polycystic kidney syndrome, infantile myofibromatosis and lateral meningocele syndrome. Furthermore, structure-abrogating mutations in result in CADASIL. Here, we discuss these human congenital disorders in the context of known roles for Notch signaling during development. Drawing on recent analyses by the exome aggregation consortium (EXAC) and on recent studies of Notch signaling in model organisms, we further highlight additional Notch receptors or ligands that are likely to be involved in human genetic diseases.
[Mh] Termos MeSH primário: Doenças Genéticas Inatas/embriologia
Doenças Genéticas Inatas/genética
Receptores Notch/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/embriologia
Anormalidades Múltiplas/genética
Síndrome de Alagille/embriologia
Síndrome de Alagille/genética
Animais
Biologia do Desenvolvimento
Displasia Ectodérmica/embriologia
Displasia Ectodérmica/genética
Síndrome de Hajdu-Cheney/embriologia
Síndrome de Hajdu-Cheney/genética
Hérnia Diafragmática/embriologia
Hérnia Diafragmática/genética
Seres Humanos
Deformidades Congênitas dos Membros/embriologia
Deformidades Congênitas dos Membros/genética
Meningocele/embriologia
Meningocele/genética
Dermatoses do Couro Cabeludo/congênito
Dermatoses do Couro Cabeludo/embriologia
Dermatoses do Couro Cabeludo/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Receptors, Notch)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171126
[Lr] Data última revisão:
171126
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170518
[St] Status:MEDLINE
[do] DOI:10.1242/dev.148007


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[PMID]:28480840
[Au] Autor:Wollina U; Chokoeva A; Verma S; Tchernev G; Handjani F
[Ad] Endereço:Department of Dermatology and Allergology, Academic Teaching Hospital Dresden-Friedrichstadt, Dresden, Germany; Onkoderma - Policlinic of Dermatology and Dermatologic Surgery, Sofia, Bulgaria; Nirvana Skin Clinic, Vadodara, Gujarat, India; Medical Institute of MVR, Department of Dermatology and Vene
[Ti] Título:APLASIA CUTIS CONGENITA TYPE I - A CASE SERIES.
[So] Source:Georgian Med News;(264):7-11, 2017 Mar.
[Is] ISSN:1512-0112
[Cp] País de publicação:Georgia (Republic)
[La] Idioma:eng
[Ab] Resumo:Aplasia Cutis Congenita is a rare disorder with circumscribed, partial or widespread absence of skin and subcutaneous soft tissue; in about 20% it also causes skull defects. The disease is heterogeneous in its clinical presentation with nine major subtypes. Type I represents nonsyndromic Aplasia Cutis Congenita. We report 5 infants with skin defects of the scalp and limbs presented to dermatologists. Pediatric workup ruled out any other malformations or genetic disorders. All patients were treated by conservative wound and skin care without complications. In one case the formation of milia has been observed - an outcome not described before. Therapeutic approach and differential diagnoses are described. Topical wound and skin care resulted in complete closure of the defects. Skin appendages did not recover, leaving hairless areas on the scalp and limbs. Aplasia Cutis Congenita type I is a rare disorder in newborns with >85% of all solitary lesions occurring on the scalp. Conservative treatment is a simple and safe option in many cases. Exposed large veins and sagittal plexus demand urgent surgical approaches to prevent fatal hemorrhages or infections.
[Mh] Termos MeSH primário: Displasia Ectodérmica/diagnóstico
[Mh] Termos MeSH secundário: Extremidades
Feminino
Seres Humanos
Lactente
Masculino
Couro Cabeludo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170808
[Lr] Data última revisão:
170808
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170509
[St] Status:MEDLINE


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[PMID]:28408480
[Au] Autor:Varshney S; Stanley P
[Ad] Endereço:Department of Cell Biology, Albert Einstein College of Medicine, New York, NY 10461, U.S.A.
[Ti] Título:EOGT and -GlcNAc on secreted and membrane proteins.
[So] Source:Biochem Soc Trans;45(2):401-408, 2017 Apr 15.
[Is] ISSN:1470-8752
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Here, we describe a recently discovered -GlcNAc transferase termed EOGT for EGF domain-specific -GlcNAc transferase. EOGT transfers GlcNAc ( -acetylglucosamine) to Ser or Thr in secreted and membrane proteins that contain one or more epidermal growth factor-like repeats with a specific consensus sequence. Thus, EOGT is distinct from OGT, the -GlcNAc transferase, that transfers GlcNAc to Ser/Thr in proteins of the cytoplasm or nucleus. EOGT and OGT are in separate cellular compartments and have mostly distinct substrates, although both can act on cytoplasmic (OGT) and lumenal (EOGT) domains of transmembrane proteins. The present review will describe known substrates of EOGT and biological roles for EOGT in and humans. Mutations in EOGT that give rise to Adams-Oliver Syndrome in humans will also be discussed.
[Mh] Termos MeSH primário: Proteínas de Drosophila/metabolismo
Drosophila melanogaster/enzimologia
Displasia Ectodérmica/genética
Deformidades Congênitas dos Membros/genética
N-Acetilglucosaminiltransferases/metabolismo
Dermatoses do Couro Cabeludo/congênito
[Mh] Termos MeSH secundário: Acetilglucosamina/metabolismo
Animais
Proteínas de Drosophila/química
Drosophila melanogaster/química
Regulação da Expressão Gênica no Desenvolvimento
Seres Humanos
Mutação
N-Acetilglucosaminiltransferases/química
N-Acetilglucosaminiltransferases/genética
Domínios Proteicos
Dermatoses do Couro Cabeludo/genética
Transdução de Sinais
Especificidade por Substrato
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Drosophila Proteins); EC 2.4.1.- (EOGT protein, human); EC 2.4.1.- (Eogt protein, Drosophila); EC 2.4.1.- (N-Acetylglucosaminyltransferases); EC 2.4.1.- (O-GlcNAc transferase); V956696549 (Acetylglucosamine)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170502
[Lr] Data última revisão:
170502
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170415
[St] Status:MEDLINE
[do] DOI:10.1042/BST20160165


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[PMID]:28403827
[Au] Autor:Khan AK; Muhammad N; Aziz A; Khan SA; Shah K; Nasir A; Khan MA; Khan S
[Ad] Endereço:Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
[Ti] Título:A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.
[So] Source:BMC Med Genet;18(1):42, 2017 Apr 12.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular level, having three genes known and two loci with no gene yet. METHODS: In this study, a four generations consanguineous family of Pakistani origin with autosomal recessive PHNED was investigated. Affected members exhibited PHNED phenotypes with involvement of complete hair loss and nail dysplasia. To screen for mutation in the genes (HOXC13, KRT74, KRT85), its coding exons and exons-intron boundaries were sequenced. The 3D models of normal and mutated HOXC13 were predicted by using homology modeling. RESULTS: Through investigating the family to known loci, the family was mapped to ectodermal dysplasia 9 (ECTD9) loci with genetic address of 12q13.13. Mutation screening revealed a novel missense mutation (c.929A > C; p.Asn310Thr) in homeobox DNA binding domain of HOXC13 gene in affected members of the family. Due to mutation, loss of hydrogen bonding and difference in potential energy occurs, which may resulting in alteration of protein function. CONCLUSION: This is the first mutation reported in homeodomain, while 5 mutation reported in HOXC13 gene causing PHNED.
[Mh] Termos MeSH primário: Displasia Ectodérmica/genética
Proteínas de Homeodomínio/genética
[Mh] Termos MeSH secundário: Adulto
Sítios de Ligação
Consanguinidade
Análise Mutacional de DNA
Feminino
Estudos de Associação Genética
Proteínas de Homeodomínio/química
Seres Humanos
Masculino
Modelos Moleculares
Mutação de Sentido Incorreto
Paquistão
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HOXC13 protein, human); 0 (Homeodomain Proteins)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170420
[Lr] Data última revisão:
170420
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170414
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0402-y



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