Results 41 to 50 of about 2,305 (172)

Tri‐Parametric Assessment of α‐Galactosidase A Activity, lysoGb3 and X‐Inactivation Aids Genotype‐Phenotype Categorization of Fabry Disease Female Patients

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Fabry disease (FD, OMIM 301500) is an X‐linked lysosomal storage disorder caused by deficient activity of lysosomal alpha‐galactosidase A (AGAL, E.C. 3.2.1.22) due to pathogenic variants in the GLA gene (HGNC:4296, Xq22.1). Plasmatic deacylated globotriaosylceramide (lysoGb3) is elevated in FD patients as a reflection of lysosomal accumulation
Ladislav Kuchar, Lenka Dvorakova, Linda Berna, Martin Reboun, Petra Slavikova, Radovan Bakalar, Jana Ledvinova, Helena Poupetova, Petr Ruzicka, Asfaw Befekadu, Gabriela Dostalova, Stella Reichmannova, Ales Linhart, Jakub Sikora   +13 more
wiley   +1 more source

Impact of Thyroid Transcription Factor‐1 Expression on Outcomes of Platinum‐Based Chemoimmunotherapy in Advanced or Recurrent Non‐Squamous Non‐Small Cell Lung Cancer

Thoracic Cancer, Volume 17, Issue 13, July 2026.
Among thyroid transcription factor‐1 (TTF‐1) negative non‐squamous (non‐sq) NSCLC patients, platinum and pemetrexed plus pembrolizumab showed comparable and preferable efficacy in terms of progression‐free survival and overall survival to that observed in TTF‐1‐positive patients.
Ryohei Kamada, Hiroshi Yokouchi, Shohei Mizobuchi, Ken Kuwahara, Yasushi Mizukami, Hidenori Mizugaki, Noriyuki Yamada, Hajime Asahina, Hirofumi Adachi, Yoshihiro Matsuno, Satoshi Oizumi   +10 more
wiley   +1 more source

Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia

Clinical Genetics, Volume 110, Issue 1, Page 3-14, July 2026.
Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise, Benkirane‐Jessel Nadia, Anton Nicolas, Vandamme Thierry, Clauss François, Conzatti Guillaume   +5 more
wiley   +1 more source

Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants

Experimental Dermatology, Volume 35, Issue 7, July 2026.
ABSTRACT The diagnosis of an ectodermal dysplasia (ED) is often made by dermatologists. Some of the more than 50 distinct ectodermal dysplasias, however, are still largely unknown and their pathogenesis is poorly understood. Since we recently discovered that variants of the Interferon Regulatory Factor 6 (IRF6) gene IRF6 may cause ED, we have further ...
Holm Schneider, Smail Hadj‐Rabia, Carola Berking, Matthias Weider, Julie Steffann, Ralf J. Rieker, Lina Gölz, Nicolai Peschel   +7 more
wiley   +1 more source

Kindler syndrome with palmoplantar hyperhidrosis and blonde hair

Indian Dermatology Online Journal, 2015
Kindler syndrome (KS) is a very rare genodermatosis characterized by acral blistering starting in infancy along with photosensitivity, progressive poikiloderma, cutaneous atrophy, and a variable degree of mucosal involvement.
Anshul Maheshwari, Daulat Ram Dhaked, Deepak K Mathur, Puneet Bhargava   +3 more
doaj   +1 more source

Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Clinical timeline of the reported EDSS1 case, illustrating disease onset, diagnostic milestones, treatment initiation, treatment modifications, and longitudinal response to combined topical minoxidil and tretinoin therapy from infancy through the last follow‐up.
Bana O. Aburajab, Hamza M. A. Ghaith, Nada Ishti, Muawia O. Aburajab   +3 more
wiley   +1 more source

Presentation of hypohidrotic ectodermal dysplasia in two siblings

Journal of Indian Academy of Oral Medicine and Radiology, 2015
Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder.
Uday Ginjupally, Balaji Babu Bangi, Lavanya Gadapa, Pooja Madki   +3 more
doaj   +1 more source

Ipsilateral hypohidrosis in brain stem infarction. [PDF]

Stroke, 1993
The brain stem is the most important autonomic processing center, but very little attention has been given to clinical manifestations of autonomic failure in brain stem stroke. Our purpose was to evaluate the prevalence, characteristics, and prognostic significance of sweating dysfunction in brain stem infarctions.
J T, Korpelainen, K A, Sotaniemi, V V, Myllylä   +2 more
openaire   +2 more sources

Ankyloblepharon‐ectodermal defects‐cleft lip/palate syndrome: a case report highlighting the importance of clinical diagnosis in a rare hereditary disorder

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Aikaterini Kyriakou, Parthena Meltzanidou, Anthoula Chatzikyriakidou, Despoina Pelagidou, Antonios Fantakis, Athina‐Ioanna Daponte, Aikaterini Patsatsi, Elizabeth Lazaridou   +7 more
wiley   +1 more source

Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

Contemporary Clinical Dentistry, 2015
The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked ...
Manisha Goyal, Gaurav Pradhan, Sunita Gupta, Seema Kapoor   +3 more
doaj   +1 more source