A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome.

Alzahrani, Ali S; Hussein, Maged; Alswailem, Meshael; Mouna, Ahmad; Albalawi, Lina; Moria, Yosra; Jabbar, Mai Abdel; Shi, Yufei; Günzel, Dorothee; Dasouki, Majed

Alzahrani, Ali S; Hussein, Maged; Alswailem, Meshael; Mouna, Ahmad; Albalawi, Lina; Moria, Yosra; Jabbar, Mai Abdel; Shi, Yufei; Günzel, Dorothee; Dasouki, Majed.

Afiliação

Alzahrani AS; Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. Electronic address: aliz@kfshrc.edu.sa.
Hussein M; Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Alswailem M; Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Mouna A; Clinical Physiology/Nutritional Medicine, Charité-Universitätsmedizin Berlin, Germany.
Albalawi L; Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Medicine, Al Majma'ah University, Al Majma'ah, Saudi Arabia.
Moria Y; Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Jabbar MA; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Shi Y; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Günzel D; Clinical Physiology/Nutritional Medicine, Charité-Universitätsmedizin Berlin, Germany.
Dasouki M; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Kidney Int ; 100(2): 415-429, 2021 08.

Article em En | MEDLINE | ID: mdl-33675844

Assuntos

Anormalidades Múltiplas/genética; Claudinas; Junções Íntimas; Claudinas/genética; Consanguinidade; Células HEK293; Humanos; Aparelho Lacrimal/fisiopatologia; Mutação; Síndrome; Equilíbrio Hidroeletrolítico; Xerostomia/genética

Palavras-chave

CLDN10; HELIX syndrome; claudin-10; claudins; hypermagnesemia; hypohidrosis; hypokalemia; ichthyosis; tight junctions; xerostomia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Junções Íntimas / Claudinas Limite: Humans Idioma: En Revista: Kidney Int Ano de publicação: 2021 Tipo de documento: Article

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