Results 81 to 90 of about 269,697 (252)

First review of chronic granulomatous disease in Palestine: clinical and genetic characteristics

Frontiers in Immunology
BackgroundChronic granulomatous disease (CGD) is an inborn error of immunity caused by genetic defects in the nicotinamide adenine dinucleotide phosphate oxidase complex, resulting in recurrent severe infections and excessive inflammatory responses.
Fatima az-Zahra Thawabteh, Sedrah Abu Rmilah, Aya Siaj, Rawan Abu khdair, Rabee Adwan, Rabee Adwan   +5 more
doaj   +1 more source

A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder

, 2011
Chantal Farra1,2, Khaled Yunis1, Nadine Yazbeck1, Marianne Majdalani1, Lama Charafeddine1, Rima Wakim1, Johnny Awwad31Department of Pediatrics and Adolescent Medicine, 2Department of Pathology, 3Department of Obstetrics and Gynecology, American ...
Yazbeck N., Wakim R., Yazbeck N, Awwad J., Charafeddine L, Majdalani M, Majdalani M., Charafeddine L., Wakim R, Awwad J, Farra C., Yunis K., Yunis K, Farra C   +13 more
core   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8 [PDF]

, 2012
Background Nephronophthisis (NPHP) as a cause of cystic kidney disease is the most common genetic cause of progressive renal failure in children and young adults.
Morahan, G., Mathew I Bellgard, Roberto A Barrero, Morahan, G, McCooke, J.K., Bellgard, MI, Jacqueline K Phillips, Ding, A., John K McCooke, Appels, R, Grant Morahan, Phillips, J.K., Justyna E Ozimek-Kulik, Phillips, JK, Bellgard, M.I., Barrero, RA, McCooke, JK, Appels, R., Barrero, R.A., Ozimek-Kulik, J.E., Rudi Appels, Alice Ding, Ozimek-Kulik, JE, Ding, A   +23 more
core   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Autosomal recessive cutis laxa syndrome revisited. [PDF]

, 2009
Contains fulltext : 80393.pdf (Publisher’s version ) (Open Access)The clinical spectrum of the autosomal recessive cutis laxa syndromes is highly heterogeneous with respect to organ involvement and severity.
Ron A Wevers, Maïlys Guillard, Morava, E., Lefeber, D.J., Dirk J Lefeber, Éva Morava, Morava, Eva, Guillard, M., Wevers, R.A.   +8 more
core   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations

, 2005
Isolated (non-syndromic) congenital cataract may be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive trait. Considerable progress has been made in identifying genes and loci for dominantly inherited cataract, but the ...
Forshew, T, Johnson, Colin, Khaliq, S
core   +2 more sources

Chronic granulomatous disease: the European experience. [PDF]

, 2009
CGD is an immunodeficiency caused by deletions or mutations in genes that encode subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH oxidase complex in phagosomes of certain phagocytic cells leads to a "respiratory burst ...
Mouy, R., Marie-José Stasia, van Koppen, Elsbeth, Belohradsky, B.H., Alain Fischer, Roesler, J., Bernatowska, Ewa, Weening, Ron S, Fischer, Alain, Roos, D., Mouy, Richard, Joachim Roesler, Petropoulou, Theoni, Belohradsky, Bernd, H., Teresa Español, Kuijpers, Taco W., Wolach, B., Taco W Kuijpers, Belohradsky, Bernd H, Español, T., Weening, R.S., Weening, Ron, S., Español, Teresa, Kuijpers, Taco, W., Ahlin, Anders, Valerius, N.H., Elsbeth van Koppen, van den Berg, J Merlijn, Stasia, M.J., Roesler, Joachim, Kuijpers, Taco W, Niels H Valerius, Magdalena Kurenko-Deptuch, Richard Mouy, Kurenko-Deptuch, M., van den Berg, J.M., Bernd H Belohradsky, Lucien Corbeel, Stasia, Marie-José, Dirk Roos, Ron S Weening, Valerius, Niels, H., Belohradsky, Bernd H., Reinhard Seger, Kuijpers, T.W., Valerius, Niels H., Weening, Ron S., Theoni Petropoulou, Seger, Reinhard, van den Berg, J. Merlijn, Kurenko-Deptuch, Magdalena, Wolach, Baruch, Roos, Dirk, Seger, R., Valerius, Niels H, van Koppen, E., Corbeel, L., J Merlijn van den Berg, Corbeel, Lucien, Fischer, A., Baruch Wolach, Bernatowska, E., Åhlin, A., Petropoulou, T., Anders Ahlin, Ewa Bernatowska   +65 more
core   +2 more sources