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Pesquisa : C10.500.507.450.249 [Categoria DeCS]
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  1 / 18 MEDLINE  
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[PMID]:27088705
[Au] Autor:Tonni G; Pattacini P; Bonasoni MP; Araujo Júnior E
[Ad] Endereço:Department of Obstetrics & Gynecology, Ospedale Civile Guastalla, AUSL Reggio Emilia, Reggio Emilia, Italy.
[Ti] Título:Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature.
[So] Source:Rev Bras Ginecol Obstet;38(4):201-6, 2016 Apr.
[Is] ISSN:1806-9339
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy. Prenatal diagnosis is feasible by demonstrating abnormal development of sulci and gyri. Magnetic resonance imaging (MRI) may enhance detection of developmental cortical disorders as well as ocular anomalies. We describe a case of early diagnosis of lissencephaly type 2 detected at the time of routine second trimester scan by three-dimensional ultrasound and fetal MRI. Gross pathology confirmed the accuracy of the prenatal diagnosis while histology showed the typical feature of cobblestone cortex. As the disease is associated with poor perinatal prognosis, early and accurate prenatal diagnosis is important for genetic counseling and antenatal care.
[Mh] Termos MeSH primário: Lissencefalia Cobblestone/diagnóstico por imagem
Diagnóstico Pré-Natal
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Imagem Tridimensional
Imagem por Ressonância Magnética
Gravidez
Diagnóstico Pré-Natal/métodos
Ultrassonografia Pré-Natal
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171106
[Lr] Data última revisão:
171106
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160419
[St] Status:MEDLINE


  2 / 18 MEDLINE  
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[PMID]:26315758
[Au] Autor:Lacalm A; Nadaud B; Massoud M; Putoux A; Gaucherand P; Guibaud L
[Ad] Endereço:Département d'Imagerie Pédiatrique et FÅ“tale, Hôpital Femme Mère Enfant, Lyon-Bron, France.
[Ti] Título:Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern.
[So] Source:Ultrasound Obstet Gynecol;47(1):117-22, 2016 Jan.
[Is] ISSN:1469-0705
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We report a specific sonographic cerebral pattern of cobblestone lissencephaly (CL) that has not been described previously. This pattern was encountered in four index cases and allowed prenatal diagnosis of CL associated with Walker-Warburg syndrome. The pattern included both an outer echogenic band with reduced pericerebral space, corresponding to an infra- and supratentorial extracortical layer of neuroglial overmigration on pathological examination, and a 'Z'-shaped appearance of the brainstem. This pattern was found as early as 14 weeks' gestation in one of our cases.
[Mh] Termos MeSH primário: Lissencefalia Cobblestone/diagnóstico por imagem
Síndrome de Walker-Warburg/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adulto
Ecoencefalografia
Feminino
Seres Humanos
Gravidez
Primeiro Trimestre da Gravidez
Segundo Trimestre da Gravidez
Ultrassonografia Pré-Natal
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1610
[Cu] Atualização por classe:170103
[Lr] Data última revisão:
170103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150829
[St] Status:MEDLINE
[do] DOI:10.1002/uog.15735


  3 / 18 MEDLINE  
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[PMID]:24755750
[Au] Autor:Park JM; Kim KO; Park CS; Jang BI
[Ad] Endereço:Division of Gastroenterology and Hepatology, Department of Internal Medicine, Yeugnam University College of Medicine, Daegu, Korea.
[Ti] Título:A case of plummer-vinson syndrome associated with Crohn's disease.
[So] Source:Korean J Gastroenterol;63(4):244-7, 2014 Apr.
[Is] ISSN:2233-6869
[Cp] País de publicação:Korea (South)
[La] Idioma:eng
[Ab] Resumo:Plummer-Vinson syndrome manifests as cervical dysphagia, iron deficiency anemia, an upper esophageal web, and atrophic glossitis. The cause of the esophageal web is thought to be iron deficiency anemia; however, the cause of Plummer-Vinson syndrome has not been established. Crohn's disease is usually accompanied by malnutrition and iron deficiency anemia; however, no case of concomitant Crohn's disease and Plummer-Vinson syndrome with aggravated malnutrition and anemia has been previously reported. Here, we report on a rare case of Plummer-Vinson syndrome in a Crohn's disease patient, which caused malnutrition and constipation.
[Mh] Termos MeSH primário: Doença de Crohn/diagnóstico
Síndrome de Plummer-Vinson/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Lissencefalia Cobblestone/diagnóstico
Colo Sigmoide/cirurgia
Doença de Crohn/complicações
Esfíncter Esofágico Superior/diagnóstico por imagem
Seres Humanos
Masculino
Síndrome de Plummer-Vinson/etiologia
Sigmoidoscopia
Esfinterotomia Endoscópica
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1504
[Cu] Atualização por classe:170309
[Lr] Data última revisão:
170309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140424
[St] Status:MEDLINE


  4 / 18 MEDLINE  
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[PMID]:24144914
[Au] Autor:Fiorillo C; Moro F; Astrea G; Morales MA; Baldacci J; Marchese M; Scapolan S; Bruno C; Battini R; Santorelli FM
[Ad] Endereço:Molecular Medicine and Neuromuscular Lab, IRCCS Stella Maris, Pisa, Italy. Electronic address: chiara.fiorillo@inpe.unipi.it.
[Ti] Título:Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.
[So] Source:Neuromuscul Disord;23(12):1010-5, 2013 Dec.
[Is] ISSN:1873-2364
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mutations in the fukutin gene were first identified in Japanese patients with classic Fukuyama congenital muscular dystrophy, a severe form of congenital muscular dystrophy associated with cobblestone lissencephaly and ocular defects. Patients of different ethnicities and with milder phenotypes, including limb girdle muscular dystrophy and cardiomyopathy without brain impairment, have also been reported. The hallmark of this disorder, regardless of the clinical outcome, is moderate-to-severe hypoglycosylation of alpha-dystroglycan in muscle sections. We describe the case of a boy harboring two novel mutations in fukutin gene and presenting a five-year history of asymptomatic hyperCKemia, without overt muscle, brain or ocular involvement. Genetic investigations, guided by the presence of moderate myopathic changes on muscle biopsy with loss of immunodetectable alpha-dystroglycan, led to a definitive diagnosis. Cardiac and echocardiographic examinations at follow-up disclosed low normal left ventricular function but no active cardiovascular symptoms. We suggest that fukutin mutations should be sought in asymptomatic hyperCKemia and subclinical heart dysfunction.
[Mh] Termos MeSH primário: Lissencefalia Cobblestone/genética
Creatina Quinase/metabolismo
Distonia/genética
Proteínas de Membrana/genética
Mutação/genética
[Mh] Termos MeSH secundário: Cardiomiopatias/complicações
Cardiomiopatias/genética
Criança
Lissencefalia Cobblestone/complicações
Distonia/complicações
Distroglicanas/metabolismo
Seres Humanos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (FKTN protein, human); 0 (Membrane Proteins); 146888-27-9 (Dystroglycans); EC 2.7.3.2 (Creatine Kinase)
[Em] Mês de entrada:1407
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:131023
[St] Status:MEDLINE


  5 / 18 MEDLINE  
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[PMID]:23274687
[Au] Autor:Quattrocchi CC; Zanni G; Napolitano A; Longo D; Cordelli DM; Barresi S; Randisi F; Valente EM; Verdolotti T; Genovese E; Specchio N; Vitiello G; Spiegel R; Bertini E; Bernardi B
[Ad] Endereço:Unit of Neuroradiology, Bambino Gesu' Children's Research Hospital IRCCS, Rome, Italy.
[Ti] Título:Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.
[So] Source:Neurogenetics;14(1):77-83, 2013 Feb.
[Is] ISSN:1364-6753
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:GPR56-related bilateral frontoparietal polymicrogyria (BFPP) is a rare recessively inherited disorder of neuronal migration caused by mutations of GPR56. To better delineate the clinical, molecular, and neuroradiological phenotypes associated with BFPP, we performed conventional magnetic resonance imaging and diffusion tensor imaging studies in a series of prospectively enrolled patients carrying novel GPR56 mutations. All subjects with GPR56-related BFPP showed a characteristic morphological pattern, including abnormalities of the cerebellar cortex with cerebellar cysts located at the periphery, a mildly thick corpus callosum, and a flat pons. Significant alterations of myelination and white matter tract abnormalities were documented. The present study confirms the phenotypic overlap between GPR56-related brain dysgenesis and other cobblestone-like syndromes and illustrates the contribution of 3D neuroimaging in the characterization of malformations of cortical development.
[Mh] Termos MeSH primário: Encéfalo/diagnóstico por imagem
Lissencefalia Cobblestone/diagnóstico por imagem
Lissencefalia Cobblestone/genética
Mutação
Receptores Acoplados a Proteínas-G/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Pré-Escolar
Estudos de Coortes
Análise Mutacional de DNA
Imagem de Tensor de Difusão
Feminino
Estudos de Associação Genética
Seres Humanos
Lactente
Imagem por Ressonância Magnética
Masculino
Mutação/fisiologia
Fenótipo
Radiografia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (GPR56 protein, human); 0 (Receptors, G-Protein-Coupled)
[Em] Mês de entrada:1308
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130101
[St] Status:MEDLINE
[do] DOI:10.1007/s10048-012-0352-7


  6 / 18 MEDLINE  
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[PMID]:22532548
[Au] Autor:Lach B; Arredondo J
[Ad] Endereço:Department of Pathology & Molecular Medicine, McMaster University and Hamilton Health Sciences, Hamilton, Ontario, Canada. lach@hhsc.ca
[Ti] Título:Cobblestone lissencephaly in Schinzel-Giedion syndrome.
[So] Source:J Child Neurol;28(2):259-63, 2013 Feb.
[Is] ISSN:1708-8283
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The brain of a 5-year-old boy with Schinzel-Giedion syndrome displayed a cobblestone appearance of orbital and lateral aspects of frontal lobes due to widespread glioneuronal meningeal heterotopia. Meningeal heterotopia consisted of scattered neurons, neurofilament positive axons, and myelinated fibers accompanied by striking astrocytic gliosis. The underlying cortex showed gaps in the pial basal lamina, distorted neuronal layering, and focal polymicrogyria. The number of capillaries appeared increased throughout the brain. Mild hydrocephalus was associated with a slight atrophy of corpus callosum as well as villous hyperplasia and marked stromal degeneration of the choroid plexus. Our findings suggest that Schinzel-Giedion syndrome may represent One more entity within enlarging spectrum of lissencephalic cortical dysplasia syndromes.
[Mh] Termos MeSH primário: Lissencefalia Cobblestone/etiologia
Anormalidades Craniofaciais/complicações
Lobo Frontal/patologia
Deformidades Congênitas da Mão/complicações
Deficiência Intelectual/complicações
Unhas Malformadas/complicações
[Mh] Termos MeSH secundário: Anormalidades Múltiplas
Antígenos CD34/metabolismo
Pré-Escolar
Lobo Frontal/metabolismo
Seres Humanos
Masculino
Proteínas do Tecido Nervoso/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD34); 0 (Nerve Tissue Proteins)
[Em] Mês de entrada:1308
[Cu] Atualização por classe:130124
[Lr] Data última revisão:
130124
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:120426
[St] Status:MEDLINE
[do] DOI:10.1177/0883073812441250


  7 / 18 MEDLINE  
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[PMID]:23217329
[Au] Autor:Vuillaumier-Barrot S; Bouchet-Séraphin C; Chelbi M; Devisme L; Quentin S; Gazal S; Laquerrière A; Fallet-Bianco C; Loget P; Odent S; Carles D; Bazin A; Aziza J; Clemenson A; Guimiot F; Bonnière M; Monnot S; Bole-Feysot C; Bernard JP; Loeuillet L; Gonzales M; Socha K; Grandchamp B; Attié-Bitach T; Encha-Razavi F; Seta N
[Ad] Endereço:Assistance Publique-Hôpitaux de Paris, Hôpital Bichat-Claude Bernard, Biochimie, Paris 75877, France. sandrine.vuillaumier@bch.aphp.fr
[Ti] Título:Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
[So] Source:Am J Hum Genet;91(6):1135-43, 2012 Dec 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Cobblestone lissencephaly is a peculiar brain malformation with characteristic radiological anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into the arachnoid space forms an extracortical layer that produces agyria and/or a "cobblestone" brain surface and ventricular enlargement. Cobblestone lissencephaly is pathognomonic of a continuum of autosomal-recessive diseases characterized by cerebral, ocular, and muscular deficits. These include Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama muscular dystrophy. Mutations in POMT1, POMT2, POMGNT1, LARGE, FKTN, and FKRP identified these diseases as alpha-dystroglycanopathies. Our exhaustive screening of these six genes, in a cohort of 90 fetal cases, led to the identification of a mutation in only 53% of the families, suggesting that other genes might also be involved. We therefore decided to perform a genome-wide study in two multiplex families. This allowed us to identify two additional genes: TMEM5 and ISPD. Because TMEM has a glycosyltransferase domain and ISPD has an isoprenoid synthase domain characteristic of nucleotide diP-sugar transferases, these two proteins are thought to be involved in the glycosylation of dystroglycan. Further screening of 40 families with cobblestone lissencephaly identified nonsense and frameshift mutations in another four unrelated cases for each gene, increasing the mutational rate to 64% in our cohort. All these cases displayed a severe phenotype of cobblestone lissencephaly A. TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies.
[Mh] Termos MeSH primário: Lissencefalia Cobblestone/genética
Proteínas de Membrana/genética
Mutação
Nucleotidiltransferases/genética
[Mh] Termos MeSH secundário: Alelos
Lissencefalia Cobblestone/diagnóstico
Consanguinidade
Éxons
Família
Feto/metabolismo
Feto/patologia
Ordem dos Genes
Genótipo
Seres Humanos
Íntrons
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Membrane Proteins); 0 (TMEM5 protein, human); EC 2.7.7.- (ISPD protein, human); EC 2.7.7.- (Nucleotidyltransferases)
[Em] Mês de entrada:1302
[Cu] Atualização por classe:150219
[Lr] Data última revisão:
150219
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:121211
[St] Status:MEDLINE


  8 / 18 MEDLINE  
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[PMID]:22323514
[Au] Autor:Devisme L; Bouchet C; Gonzalès M; Alanio E; Bazin A; Bessières B; Bigi N; Blanchet P; Bonneau D; Bonnières M; Bucourt M; Carles D; Clarisse B; Delahaye S; Fallet-Bianco C; Figarella-Branger D; Gaillard D; Gasser B; Delezoide AL; Guimiot F; Joubert M; Laurent N; Laquerrière A; Liprandi A; Loget P; Marcorelles P; Martinovic J; Menez F; Patrier S; Pelluard F; Perez MJ; Rouleau C; Triau S; Attié-Bitach T; Vuillaumier-Barrot S; Seta N; Encha-Razavi F
[Ad] Endereço:Institut de Pathologie, Centre de Biologie-Pathologie, CHU Lille, 33.3.20446983, France.
[Ti] Título:Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
[So] Source:Brain;135(Pt 2):469-82, 2012 Feb.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Cobblestone lissencephaly represents a peculiar brain malformation with characteristic radiological anomalies, defined as cortical dysplasia combined with dysmyelination, dysplastic cerebellum with cysts and brainstem hypoplasia. Cortical dysplasia results from neuroglial overmigration into the arachnoid space, forming an extracortical layer, responsible for agyria and/or 'cobblestone' brain surface and ventricular enlargement. The underlying mechanism is a disruption of the glia limitans, the outermost layer of the brain. Cobblestone lissencephaly is pathognomonic of a continuum of autosomal recessive diseases with cerebral, ocular and muscular deficits, Walker-Warburg syndrome, muscle-eye-brain and Fukuyama muscular dystrophy. Mutations in POMT1, POMT2, POMGNT1, LARGE, FKTN and FKRP genes attributed these diseases to α-dystroglycanopathies. However, studies have not been able to identify causal mutations in the majority of patients and to establish a clear phenotype/genotype correlation. Therefore, we decided to perform a detailed neuropathological survey and molecular screenings in 65 foetal cases selected on the basis of histopathological criteria. After sequencing the six genes of α-dystroglycanopathies, a causal mutation was observed in 66% of cases. On the basis of a ratio of severity, three subtypes clearly emerged. The most severe, which we called cobblestone lissencephaly A, was linked to mutations in POMT1 (34%), POMT2 (8%) and FKRP (1.5%). The least severe, cobblestone lissencephaly C, was linked to POMGNT1 mutations (18%). An intermediary type, cobblestone lissencephaly B, was linked to LARGE mutations (4.5%) identified for the first time in foetuses. We conclude that cobblestone lissencephaly encompasses three distinct subtypes of cortical malformations with different degrees of neuroglial ectopia into the arachnoid space and cortical plate disorganization regardless of gestational age. In the cerebellum, histopathological changes support the novel hypothesis that abnormal lamination arises from a deficiency in granule cells. Our studies demonstrate the positive impact of histoneuropathology on the identification of α-dystroglycanopathies found in 66% of cases, while with neuroimaging criteria and biological values, mutations are found in 32-50% of patients. Interestingly, our morphological classification was central in the orientation of genetic screening of POMT1, POMT2, POMGNT1, LARGE and FKRP. Despite intensive research, one-third of our cases remained unexplained; suggesting that other genes and/or pathways may be involved. This material offers a rich resource for studies on the affected neurodevelopmental processes of cobblestone lissencephaly and on the identification of other responsible gene(s)/pathway(s).
[Mh] Termos MeSH primário: Encéfalo/patologia
Lissencefalia Cobblestone/genética
Lissencefalia Cobblestone/patologia
Distroglicanas/genética
[Mh] Termos MeSH secundário: Encéfalo/metabolismo
Lissencefalia Cobblestone/metabolismo
Distroglicanas/metabolismo
Feminino
Feto
Seres Humanos
Recém-Nascido
Masculino
Manosiltransferases/genética
Manosiltransferases/metabolismo
Proteínas de Membrana/genética
Proteínas de Membrana/metabolismo
N-Acetilglucosaminiltransferases/genética
N-Acetilglucosaminiltransferases/metabolismo
Proteínas/genética
Proteínas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (FKRP protein, human); 0 (FKTN protein, human); 0 (Membrane Proteins); 0 (Proteins); 146888-27-9 (Dystroglycans); EC 2.4.1.- (LARGE protein, human); EC 2.4.1.- (Mannosyltransferases); EC 2.4.1.- (N-Acetylglucosaminyltransferases); EC 2.4.1.- (protein O-mannose beta-1,2-N-acetylglucosaminyltransferase); EC 2.4.1.109 (protein O-mannosyltransferase)
[Em] Mês de entrada:1204
[Cu] Atualização por classe:120220
[Lr] Data última revisão:
120220
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:120211
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awr357


  9 / 18 MEDLINE  
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[PMID]:21768377
[Au] Autor:Luo R; Jeong SJ; Jin Z; Strokes N; Li S; Piao X
[Ad] Endereço:Division of Newborn Medicine, Department of Medicine, Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
[Ti] Título:G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination.
[So] Source:Proc Natl Acad Sci U S A;108(31):12925-30, 2011 Aug 02.
[Is] ISSN:1091-6490
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:GPR56, an orphan G protein-coupled receptor (GPCR) from the family of adhesion GPCRs, plays an indispensable role in cortical development and lamination. Mutations in the GPR56 gene cause a malformed cerebral cortex in both humans and mice that resembles cobblestone lissencephaly, which is characterized by overmigration of neurons beyond the pial basement membrane. However, the molecular mechanisms through which GPR56 regulates cortical development remain elusive due to the unknown status of its ligand. Here we identify collagen, type III, alpha-1 (gene symbol Col3a1) as the ligand of GPR56 through an in vitro biotinylation/proteomics approach. Further studies demonstrated that Col3a1 null mutant mice exhibit overmigration of neurons beyond the pial basement membrane and a cobblestone-like cortical malformation similar to the phenotype seen in Gpr56 null mutant mice. Functional studies suggest that the interaction of collagen III with its receptor GPR56 inhibits neural migration in vitro. As for intracellular signaling, GPR56 couples to the Gα(12/13) family of G proteins and activates RhoA pathway upon ligand binding. Thus, collagen III regulates the proper lamination of the cerebral cortex by acting as the major ligand of GPR56 in the developing brain.
[Mh] Termos MeSH primário: Membrana Basal/metabolismo
Córtex Cerebral/metabolismo
Colágeno Tipo III/metabolismo
Receptores Acoplados a Proteínas-G/metabolismo
[Mh] Termos MeSH secundário: Animais
Membrana Basal/embriologia
Membrana Basal/ultraestrutura
Encéfalo/embriologia
Encéfalo/metabolismo
Movimento Celular/efeitos dos fármacos
Células Cultivadas
Córtex Cerebral/embriologia
Lissencefalia Cobblestone/genética
Lissencefalia Cobblestone/metabolismo
Colágeno Tipo III/genética
Subunidades alfa G12-G13 de Proteínas de Ligação ao GTP/metabolismo
Seres Humanos
Immunoblotting
Imuno-Histoquímica
Imunoprecipitação
Camundongos
Camundongos Knockout
Microscopia Imunoeletrônica
Células NIH 3T3
Neurônios/citologia
Neurônios/efeitos dos fármacos
Neurônios/metabolismo
Ligação Proteica
Receptores Acoplados a Proteínas-G/genética
Proteínas Recombinantes/farmacologia
Proteína rhoA de Ligação ao GTP/genética
Proteína rhoA de Ligação ao GTP/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Collagen Type III); 0 (GPR56 protein, mouse); 0 (Receptors, G-Protein-Coupled); 0 (Recombinant Proteins); EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, G12-G13); EC 3.6.5.2 (rhoA GTP-Binding Protein)
[Em] Mês de entrada:1110
[Cu] Atualização por classe:161025
[Lr] Data última revisão:
161025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110720
[St] Status:MEDLINE
[do] DOI:10.1073/pnas.1104821108


  10 / 18 MEDLINE  
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[PMID]:20929962
[Au] Autor:Bahi-Buisson N; Poirier K; Boddaert N; Fallet-Bianco C; Specchio N; Bertini E; Caglayan O; Lascelles K; Elie C; Rambaud J; Baulac M; An I; Dias P; des Portes V; Moutard ML; Soufflet C; El Maleh M; Beldjord C; Villard L; Chelly J
[Ad] Endereço:Service de Neurologie pédiatrique, Assistance Publique-Hôpitaux de Paris (AP-HP), hôpital Necker, Paris, France. nadia.bahi-buisson@nck.aphp.fr
[Ti] Título:GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
[So] Source:Brain;133(11):3194-209, 2010 Nov.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia. Recent investigations of a GPR56 knockout mouse model suggest that bilateral bifrontoparietal polymicrogyria shares some features of the cobblestone brain malformation and demonstrate that loss of GPR56 leads to a dysregulation of the maintenance of the pial basement membrane integrity in the forebrain and the rostral cerebellum. In light of these findings and other data in the literature, this study aimed to refine the clinical features with the first description of a foetopathological case and to define the range of cobblestone-like features in GPR56 bilateral bifrontoparietal polymicrogyria in a sample of 14 patients. We identified homozygous GPR56 mutations in 14 patients from eight consanguineous families with typical bilateral bifrontoparietal polymicrogyria and in one foetal case, out of 30 patients with bifrontoparietal polymicrogyria referred for molecular screening. The foetal case, which was terminated at 35 weeks of gestation in view of suspicion of Walker Warburg syndrome, showed a cobblestone-like lissencephaly with a succession of normal, polymicrogyric and 'cobblestone-like' cortex with ectopic neuronal overmigration, agenesis of the cerebellar vermis and hypoplastic cerebellar hemispheres with additional neuronal overmigration in the pons and the cerebellar cortex. The 14 patients with GPR56 mutations (median 8.25 years, range 1.5-33 years) were phenotypically homogeneous with a distinctive clinical course characterized by pseudomyopathic behaviour at onset that subsequently evolved into severe mental and motor retardation. Generalized seizures (12/14) occurred later with onset ranging from 2.5 to 10 years with consistent electroencephalogram findings of predominantly anterior bursts of low amplitude α-like activity. Neuroimaging demonstrated a common phenotype with bilateral frontoparietally predominant polymicrogyria (13/13), cerebellar dysplasia with cysts mainly affecting the superior vermis (11/13) and patchy to diffuse myelination abnormalities (13/13). Additionally, the white matter abnormalities showed a peculiar evolution from severe hypomyelination at 4 months to patchy lesions later in childhood. Taken as a whole, these observations collectively demonstrate that GPR56 bilateral bifrontoparietal polymicrogyria combines all the features of a cobblestone-like lissencephaly and also suggest that GRP56-related defects produce a phenotypic continuum ranging from bilateral bifrontoparietal polymicrogyria to cobblestone-like lissencephaly.
[Mh] Termos MeSH primário: Lissencefalia Cobblestone/genética
Lobo Frontal/patologia
Homologia de Genes
Malformações do Desenvolvimento Cortical/genética
Malformações do Desenvolvimento Cortical/patologia
Lobo Parietal/patologia
Receptores Acoplados a Proteínas-G/genética
[Mh] Termos MeSH secundário: Aborto Induzido
Adolescente
Adulto
Criança
Pré-Escolar
Lissencefalia Cobblestone/diagnóstico
Lissencefalia Cobblestone/patologia
Feminino
Doenças Fetais/genética
Doenças Fetais/patologia
Mutação da Fase de Leitura
Seres Humanos
Lactente
Masculino
Malformações do Desenvolvimento Cortical/diagnóstico
Mutação de Sentido Incorreto
Linhagem
Síndrome
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; COMPARATIVE STUDY; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (GPR56 protein, human); 0 (Receptors, G-Protein-Coupled)
[Em] Mês de entrada:1011
[Cu] Atualização por classe:101029
[Lr] Data última revisão:
101029
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:101009
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awq259



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