Results 141 to 150 of about 618,834 (263)

Toll-like Receptors in Inborn Errors of Immunity in Children: Diagnostic Potential and Therapeutic Frontiers-A Review of the Latest Data. [PDF]

Cells
Jurczuk A, Bałdyga P, Płoński A, Jurczuk M, Garley M.   +4 more
europepmc   +1 more source

Garrod's Inborn Factors in Disease. By C.R. Scriver, B. Childs. Oxford Monographs in Medical Genetics No.16. Oxford University Press. 1989. 247 pages, £25.00. ISBN 0 19 261574 2. [PDF]

Genetical Research, 1989
openaire   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Comprehensive approach to primary immunodeficiencies in adulthood: recognition and diagnosis. [PDF]

Rev Esp Quimioter
Muñoz-Echeverria L, Sánchez-Cano JG, Losa-García JE.   +2 more
europepmc   +1 more source

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, EarlyView.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

Targeted Medical Therapies for Vascular Anomalies: A Clinical Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Vascular anomalies represent a broad spectrum of disorders characterized by aberrant blood or lymphatic vessel development, which can lead to complex clinical phenotypes. Historically, vascular anomalies were classified solely on the basis of their clinical and histopathologic features.
Whitney Eng
wiley   +1 more source

Association of maternal biliary disease with hepatopancreatobiliary morbidity in offspring. [PDF]

J Pediatr Gastroenterol Nutr
Auger N, Magri A, Kang-Auger S, Jutras G, Healy-Profitós J, Bilodeau-Bertrand M, Côté-Corriveau G.   +6 more
europepmc   +1 more source

Evaluation of a modified triple‐combination anesthesia using dexmedetomidine in mice

Animal Models and Experimental Medicine, EarlyView.
Development of a modified ketamine‐free anesthetic (dMMB) using dexmedetomidine. To improve the safety and recovery profile of conventional MMB, we developed dMMB by replacing medetomidine with dexmedetomidine. This ketamine‐free formulation showed comparable anesthetic depth and enhanced thermoregulation, avoiding unnecessary isomers for safer use ...
Masaki Watanabe, Ryosuke Nakanishi, Tomoki Omori, Takeru Sasaki, Atsushi Asano, Nobuya Sasaki   +5 more
wiley   +1 more source

The seven enigmas of SARS-CoV-2: from the past to the future. [PDF]

J Hum Immun
Andreakos E, Arkin L, Bastard P, Bolze A, Borghesi A, Brodin P, Casanova JL, Casari G, Cobat A, Drolet B, Fellay J, Hsieh E, Meyts I, Mogensen TH, Sancho-Shimizu V, Spaan AN, Su HC, Vinh DC, Yatim A, Zhang Q, Zhang SY, COVID Human Genetic Effort+.   +21 more
europepmc   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source