Results 81 to 90 of about 4,832 (184)

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

Sequence Context‐Agnostic TadA‐Derived Cytosine Base Editors for Genome‐Wide Editing in Zebrafish

Advanced Science, Volume 12, Issue 14, April 10, 2025.
zTadA‐CBEs, developed by introducing key mutations into TadA8e, enable efficient and precise sequence context‐agnostic cytosine base editing. Specifically, zTadA‐BE4max and zTadA‐BEmv provide complementary editing windows, while zTadA‐SpRY‐BE4max offers PAM‐flexible editing.
Shaohui Zheng, Yang Liu, Xinxin Xia, Jiawang Xiao, Hui Ma, Xuanyao Yuan, Yan Zhang, Zixi Chen, Guangcong Peng, Wenyuan Li, Ji‐Feng Fei, Yanmei Liu   +11 more
wiley   +1 more source

Neurological Manifestations in Primary Immunodeficiencies [PDF]

, 2016
As imunodeficiências primárias são um grupo heterogéneo de doenças individualmente raras. A sua associação a manifestações neurológicas não é rara, sendo os mecanismos fisiopatológicos implicados distintos consoante a patologia em causa. As manifestações
Conde, M, Cordeiro, AI, Farela Neves, J, Lopes Silva, R, Neves, C, Oliveira, M   +5 more
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Diagnosing haemophagocytic syndrome [PDF]

, 2016
Haemophagocytic syndrome, or haemophagocytic lymphohistiocytosis (HLH), is a hyperinflammatory disorder characterised by uncontrolled activation of the immune system.
Ramanan, Athimalaipet V, Sen, Ethan S, Steward, Colin G   +2 more
core   +2 more sources