Results 21 to 30 of about 1,144,906 (160)

A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene. [PDF]

Mol Genet Genomic Med
GJB2 and GJB6 variants, encoding Cx26 and Cx30 respectively, are the most frequently involved genes commonly contributing to hereditary hearing loss either isolated or in combination with skin abnormalities. GJB6 variations are classically associated with two distinct conditions: non‐syndromic hearing loss and hidrotic ectodermal dysplasia, type ...
Elmakhzen B, Rollier P, Saillard C, Godey B, Le Marechal C, Gueguen P, Fajardy I, Odent S, Pasquier L.   +8 more
europepmc   +2 more sources

UK recommendations for chimerism testing and monitoring following allogeneic haematopoietic stem cell transplantation (HSCT): Best practice consensus guidelines from the British Society for Blood and Marrow Transplant and Cellular Therapies (BSBMTCT), NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group, UK Cancer Genetics Group (UKCGG) and the UK National External Quality Assessment Service for Leucocyte Immunophenotyping (UK NEQAS LI). [PDF]

Br J Haematol
Summary In allogeneic haematopoietic stem cell transplantation (HSCT), important clinical decisions depend upon assessment of chimerism, including immunosuppressant dosing and donor lymphocyte infusions (DLI), which in turn can have major impacts on disease control, graft‐versus‐host disease (GVHD), immunity and ultimately patient survival.
Clark A, Clouston H, Rao K, Folarin N, De la Fuente J, Hamblin A, Olavarria E, Richardson D, Talley P, Potter V, Loke J, McVeigh T, Snowden J.   +12 more
europepmc   +2 more sources

A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice. [PDF]

EBioMedicine, 2020
Kuang Y, Zorzi V, Buratto D, Ziraldo G, Mazzarda F, Peres C, Nardin C, Salvatore AM, Chiani F, Scavizzi F, Raspa M, Qiang M, Chu Y, Shi X, Li Y, Liu L, Shi Y, Zonta F, Yang G, Lerner RA, Mammano F.   +20 more
europepmc   +3 more sources

Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations

Indian Journal of Paediatric Dermatology, 2022
Siti Nuraihan, Jiayi Lee, Zacharias Aloysius Dwi Pramano, Kin Fon Leong   +3 more
doaj   +2 more sources

A Turkish family with Clouston syndrome caused by G11R mutation in GJB6

TURKDERM, 2015
Clouston syndrome (CS) is an ectodermal dysplasia characterized by nail dystrophy and hair defects and inherited in an autosomal dominant trait (OMIM #129500). It is caused by the mutations in GJB6 gene which is encoding connexin 30 (Cx30), a member of connexin family and included in the structure of gap junctions serving in intercellular interactions.
Zafer Yüksel, Özden Kutlay, Kadri Karaer   +2 more
openalex   +3 more sources

Intergenerational Clouston Syndrome [PDF]

Journal of Cutaneous Medicine and Surgery
Cassandra Bertrand, Catherine Cameron McCuaig   +1 more
openalex   +2 more sources

Novel clinical features associated with Clouston syndrome [PDF]

International Journal of Dermatology, 2019
Francisco Cammarata‐Scalisi, Martina Rinelli, Elisa Pisaneschi, Andrea Diociaiuti, Colin Eric Willoughby, Andrea Avendaño, Maria Cristina Digilio, Antonio Novelli, Michele Callea   +8 more
openalex   +2 more sources

Clouston syndrome: case report and diagnostic approach to pachyonychia in pediatrics [PDF]

Medicina cutaìnea ibero-latino-americana (English ed Internet)
Johan Conquett-Huertas, Gustavo Antonio Posso Garcia, Jairo Victoria Chaparro, Guillermo González-Rodríguez   +3 more
openalex   +2 more sources

Revolutionizing regeneration: stem cells transform treatment of hidrotic ectodermal dysplasia (Clouston syndrome)

Regenerative Medicine
Riaz Ahmad, Ubaid Ur Rehman
exaly   +3 more sources

Confirmation of Linkage of Clouston Syndrome (Hidrotic Ectodermal Dysplasia) to 13q11-q12.1 with Evidence for Multiple Independent Mutations [PDF]

, 1998
Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant disorder characterized by the triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
Todd D. Taylor, Susan J. Hayflick, Mike Litt, Jonathan Zonana, Wendy C. McKinnon, Alan E. Guttmacher, Alain Hovnanian   +6 more
openalex   +2 more sources