Results 71 to 80 of about 4,782 (148)

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu, Kierstin Keller, Dong Li, Hope Thomas, Nora O'Connor, Abbas F. Jawad, Allison Thomas, Nina H. Thomas, Hakon Hakonarson, Leslie Castelo‐Soccio, Sarah E. Sheppard   +10 more
wiley   +1 more source

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3 [PDF]

, 2017
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by the triad of tyrosinase-positive oculocutaneous albinism, bleeding diathesis due to storage-pool deficiency of platelets, and a lysosomal ceroid storage disease.
Almodóvar, Carmelo, Frenk, Edgar, Fukai, Kazuyoshi, Oh, Jangsuk, Spritz, Richard A.   +4 more
core  

The Interconnected World of Dermatology and Ophthalmology

JEADV Clinical Practice, Volume 4, Issue 2, Page 389-399, June 2025.
Medical science, is an integrated field that shares intricate relationship between various organ systems. Similarly, dermatology is inter‐related with various other specialties including ophthalmology. This article depicts the correlation of ophthalmology and dermatology iterating on the genetic diseases, autoimmune diseases, systemic disorders ...
Gyanesh Rathore, Surajit Gorai, Gitikash Purkayastha, Kinnor Das, Prajwal Pudasaini   +4 more
wiley   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Delineating the genetic heterogeneity of OCA in Hungarian patients [PDF]

, 2017
BACKGROUND: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation.
Csoma, Zsanett, Farkas, Katalin, Fábos, Beáta, Kemény, Lajos, Nagy, Nikoletta, Németh, Réka, Sulák, Adrienn, Széll, Márta, Tihanyi, Marianna, Tripolszki, Kornélia, Tóth, Lola, Vas, Krisztina   +11 more
core   +2 more sources

Evaluating the Use of iPSC‐Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease

Pediatric Pulmonology, Volume 60, Issue 5, May 2025.
ABSTRACT Rationale Genetic testing has significantly improved the diagnosis of childhood interstitial lung diseases (chILD), which have long challenged clinicians due to their heterogeneity and poor characterization. It is now imperative to study variants of unknown significance (VUS) to identify pathogenic mutations to optimize diagnosis and screening
Swetha Jinson, Shivanthan Shanthikumar, Rhiannon B. Werder   +2 more
wiley   +1 more source

Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome

Orphanet Journal of Rare Diseases, 2019
Background Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction and can sometimes lead to a highly aggressive form of pulmonary fibrosis that mimics the fatal lung ...
Ross Summer, Rachana Krishna, DeLeila Schriner, Karina Cuevas-Mora, Dominic Sales, Rachel Para, Jesse Roman, Carl Nieweld, Bernadette R. Gochuico, Freddy Romero   +9 more
doaj   +1 more source

Loss of strumpellin in the melanocytic lineage impairs the WASH Complex but does not affect coat colour [PDF]

, 2016
The five-subunit WASH complex generates actin networks that participate in endocytic trafficking, migration and invasion in various cell types. Loss of one of the two subunits WASH or strumpellin in mice is lethal, but little is known about their role in
Insall, Robert H., Machesky, Laura M., Spence, Heather J., Strathdee, Douglas, Tyrrell, Benjamin J., Woodham, Emma F.   +5 more
core   +1 more source

Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations [PDF]

, 2017
Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of signal transducer and activator of transcription 1 (STAT1) cause chronic mucocutaneous candidiasis disease.
Badolato, Raffaele, Cassatella, Marco A., Dotta, Laura, Ferraro, Rosalba Monica, Gasperini, Sara, Giardino, Giuliana, Lougaris, Vassilios, Parolini, Silvia, Patrizi, Ornella, Pignata, Claudio, Plebani, Alessandro, Scomodon, Omar, Soresina, Annarosa, Tabellini, Giovanna, Tamassia, Nicola, Vairo, Donatella   +15 more
core   +1 more source