A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.

Potuijt, Jacob W P; Baas, Martijn; Sukenik-Halevy, Rivka; Douben, Hannie; Nguyen, Picard; Venter, Deon J; Gallagher, Renée; Swagemakers, Sigrid M; Hovius, Steven E R; van Nieuwenhoven, Christianne A; Galjaard, Robert-Jan H; van der Spek, Peter J; Ahituv, Nadav; de Klein, Annelies

Potuijt, Jacob W P; Baas, Martijn; Sukenik-Halevy, Rivka; Douben, Hannie; Nguyen, Picard; Venter, Deon J; Gallagher, Renée; Swagemakers, Sigrid M; Hovius, Steven E R; van Nieuwenhoven, Christianne A; Galjaard, Robert-Jan H; van der Spek, Peter J; Ahituv, Nadav; de Klein, Annelies.

Afiliação

Potuijt JWP; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. j.potuijt@erasmusmc.nl.
Baas M; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Sukenik-Halevy R; Department of Bioengineering and Therapeutic Sciences, University of California-San Francisco, San Francisco, California, USA.
Douben H; Institute for Human Genetics, University of California-San Francisco, San Francisco, California, USA.
Nguyen P; Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel.
Venter DJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Gallagher R; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Swagemakers SM; Department of Pathology, Mater Health Services, South Brisbane, Queensland, Australia.
Hovius SER; Department of Neuropathology, Royal Prince Alfred Hospital, Camperdown, Sydney, Australia.
van Nieuwenhoven CA; School of Medicine, University of Wollongong, Wollongong, New South Wales, Australia.
Galjaard RH; Department of Pathology, Mater Health Services, South Brisbane, Queensland, Australia.
van der Spek PJ; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Ahituv N; Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
de Klein A; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Genet Med ; 20(11): 1405-1413, 2018 11.

Article em En | MEDLINE | ID: mdl-29543231

Assuntos

Anormalidades Congênitas/genética; Predisposição Genética para Doença; Proteínas Hedgehog/genética; Disostose Mandibulofacial/genética; Proteínas de Membrana/genética; Animais; Cromossomos Humanos Par 7/genética; Elementos Facilitadores Genéticos/genética; Feminino; Regulação da Expressão Gênica/genética; Ligação Genética; Humanos; Hibridização in Situ Fluorescente; Botões de Extremidades/fisiopatologia; Masculino; Camundongos; Linhagem; Mutação Puntual/genética; Polimorfismo de Nucleotídeo Único; Sequenciamento do Exoma

Palavras-chave

congenital limb deformities; genetic enhancer elements; hedgehog protein; polydactyly; syndactyly

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Predisposição Genética para Doença / Proteínas Hedgehog / Disostose Mandibulofacial / Proteínas de Membrana Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda

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