Results 51 to 60 of about 7,127 (212)

Comparative structures and evolution of vertebrate lipase H (LIPH) genes and proteins: a relative of the phospholipase A1 gene families [PDF]

, 2012
Lipase H (LIPH) is a membrane-bound phospholipase generating 2-acyl lysophosphatidic acid (LPA) in the body. LPA is a lipid mediator required for maintaining homeostasis of diverse biological functions and in activating cell surface receptors such as ...
Laura A. Cox, Roger S. Holmes
core   +1 more source

Christ siemens touraine syndrome: A rare case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2016
Christ-Siemens-Touraine (CST) is a rare hereditary disorder of X-linked recessive trait, characterized by abnormal development of two or more structures or tissues of ectodermal origin.
N Retnakumari, Manuja Varghese, V P Kannan   +2 more
doaj   +1 more source

Prosthodontic management of anhidrotic ectodermal dysplasia

Indian Journal of Dental Research, 2011
Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent
Shilpy Gupta, Parimala Tyagi
doaj   +1 more source

World Association for Veterinary Dermatology Consensus Statement for Diagnosis, and Evidence‐Based Clinical Practice Guidelines for Treatment and Prevention of Canine Leishmaniosis

Veterinary Dermatology, Volume 36, Issue 6, Page 723-787, December 2025.
Hyperkeratosis of (a) the footpads and (b) the nasal planum. ABSTRACT Background Canine leishmaniosis (CanL) due to Leishmania infantum remains common, and veterinarians do not always follow scientifically sound approaches for diagnosis, treatment and prevention. Objectives To provide consensus guidelines for diagnosis and evidence‐based guidelines for
Manolis N. Saridomichelakis, Gad Baneth, Silvia Colombo, Filipe Dantas‐Torres, Lluís Ferrer, Alessandra Fondati, Guadalupe Miró, Laura Ordeix, Domenico Otranto, Chiara Noli   +9 more
wiley   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation [PDF]

, 2016
BACKGROUND: Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.
Bygum, Anette, Clemmensen, Ole, Gjørup, Hans, Hertz, Jens Michael, Krøigård, Anne Bruun   +4 more
core   +2 more sources

Ectodermal dysplasia: Report of two cases in a family and literature review

Journal of Family Medicine and Primary Care, 2019
Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi, Dheeraj Voulligonda, Bharadwaj Bhogavaram, P Krishnanjaneya Reddy   +3 more
doaj   +1 more source

Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis [PDF]

, 2016
Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program.
Adase, Christopher A, Adir, Noam, Ast, Gil, Bochner, Ron, Campbell, Linda E., Erez, Noam, Fainberg, Gilad, Gallo, Richard L., Gat, Andrea, Goldberg, Ilan, Gottlieb, Yehonatan, Isakov, Ofer, Li, Qiaoli, MacCallum, Stephanie, Malchin, Natalia, McLean, W. H. Irwin, Pavlovsky, Mor, Peled, Alon, Rogers, Tova, Samuelov, Liat, Sandilands, Aileen, Sarig, Ofer, Shayevitch, Ronna, Shomron, Noam, Sprecher, Eli, Uitto, Jouni, Vodo, Dan, Warshauer, Emily, Yu, Benjamin D.   +28 more
core   +2 more sources

From Eye Care to Hair Growth: Bimatoprost

Pharmaceuticals
Background: Bimatoprost has emerged as a significant medication in the field of medicine over the past several decades, with diverse applications in ophthalmology, dermatology, and beyond.
Marco Zeppieri, Caterina Gagliano, Leopoldo Spadea, Carlo Salati, Ekele Caleb Chukwuyem, Ehimare Samuel Enaholo, Fabiana D’Esposito, Mutali Musa   +7 more
doaj   +1 more source

Glucagonoma and Glucagonoma Syndrome: An Updated Review

Clinical Endocrinology, Volume 103, Issue 4, Page 417-426, October 2025.
ABSTRACT Background Glucagonoma is a rare well‐differentiated slowly proliferating pancreatic neuroendocrine tumour, characterized by several manifestations including necrolytic migratory erythema, weight loss, diabetes and anaemia. Aim The purpose of the current review was to acknowledge literature about this rare tumour discerning the clinical ...
Sofia Anelli, Rossella Mazzilli, Virginia Zamponi, Beatrice Giorgini, Bianca Golisano, Camilla Mancini, Flaminia Russo, Francesco Panzuto, Antongiulio Faggiano   +8 more
wiley   +1 more source