Results 211 to 220 of about 358,334 (318)

PharmVar GeneFocus: NAT2—Genetic Variation and Updated Nomenclature

Clinical Pharmacology &Therapeutics, EarlyView.
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human N‐acetyltransferase 2 (NAT2) gene. NAT2 metabolizes several clinically used drugs including isoniazid, hydralazine, amifampridine, procainamide, and sulfonamides such as dapsone, and also some highly carcinogenic arylamines.
Georgia Papanikolaou, Estella S. Poloni, José A.G. Agúndez, Raquel L.F. Teixeira, Erin C. Boone, Adalberto Rezende Santos, Michelle Whirl‐Carrillo, Katrin Sangkuhl, Teri E. Klein, Mariam R. Habil, Giannoulis Fakis, Rodney F. Minchin, David W. Hein, Sotiria Boukouvala, Andrea Gaedigk   +14 more
wiley   +1 more source

Three-year experience with GLP-2 analog in intestinal rehabilitation for pediatric-onset short bowel syndrome. [PDF]

Pediatr Surg Int
Tazuke Y, Kimura T, Ueno T, Nakahata K, Deguchi K, Uga N, Okuyama H, Oue T.   +7 more
europepmc   +1 more source

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update

Clinical Pharmacology &Therapeutics, EarlyView.
Thiopurine methyltransferase (TPMT) and Nudix hydrolase 15 (NUDT15) are key enzymes that catabolize thiopurines. Decreased or no‐function alleles in TPMT and NUDT15 are associated with reduced or no enzyme activity and predictive of pronounced adverse effects, including severe myelosuppression, that may occur among individuals treated with standard ...
Maud Maillard, Matthias Schwab, Michelle Whirl‐Carrillo, Ann M. Moyer, Guilherme Suarez‐Kurtz, Ching‐Hon Pui, C. Michael Stein, Teri E. Klein, Claire Spahn, Sooyeon Kwon, Juanda Leo Hartono, Nanne K. de Boer, Tariq Ahmad, Federico Guillermo Antillon‐Klussmann, Kelly E. Caudle, Motohiro Kato, Allen E. J. Yeoh, Kjeld Schmiegelow, Jun J. Yang   +18 more
wiley   +1 more source

Intestinal autonomy in extreme premature infants with short bowel syndrome: national experience. [PDF]

Pediatr Surg Int
Mammoo S, Alshahwani N, Mancha MA, Baghazal H, Ali M, Brisseau G.   +5 more
europepmc   +1 more source

Advancing Maternal Health with Long‐Acting Therapeutics: Priorities, Efficacy and Safety Considerations, and Emerging Technologies

Clinical Pharmacology &Therapeutics, EarlyView.
Maternal health remains a critical global concern, particularly in underserved populations and in low‐ and middle‐income countries where access to safe and effective therapeutics is limited. Despite the use of medications by most women during pregnancy, the exclusion of pregnant and lactating women from clinical trials has resulted in significant data ...
Rachel K. Scott, Sharon Nachman, Ethel D. Weld, Rachel Daley, Shakir Atoyebi, Robert Bies, Catriona Waitt, Adeniyi Olagunju   +7 more
wiley   +1 more source

Glucagon-Like Peptide-2 (GLP-2) Analogues in Patients With Short Bowel Syndrome Dependent on Parenteral Support: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. [PDF]

JGH Open
Hyder A, Alria A, Rafiq A, Akram MF, Hassan T, Ali EF, Vhora F, Khan S, Zahra SG, Niazi MA, Jafar U, Cheema HA, Alsubari AMA, Altaf F, Bhat A, Rashad E, Jalal PK.   +16 more
europepmc   +1 more source

Pss knockdown in the midgut causes growth retardation in Drosophila similar to that in human LMHD

Developmental Dynamics, EarlyView.
Abstract Background Phosphatidylserine synthase (PSS), localized in the mitochondrial membrane, synthesizes phosphatidylserine. In humans, mutations in Pss lead to Lenz–Majewski hyperostotic dwarfism, a disorder affecting growth and development. The effects of Pss mutations on the growth of Drosophila melanogaster are not fully known. Hence, this study
Kwan‐Young Kim, You‐Lim Hwang, Sunwoo Yeom, Seung‐Hae Kwon, Sang‐Hak Jeon   +4 more
wiley   +1 more source

Extreme Short Bowel Syndrome: A Case of Resilience and Recovery From Acute Intestinal Failure. [PDF]

Cureus
Islam S, Harkissoon R, Maughn A, Harnarayan P, Naraynsingh V.   +4 more
europepmc   +1 more source

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model

Developmental Dynamics, EarlyView.
Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu, Katja R. MacCharles, Kenneth Kin Lam Wong, Joy M. Richman, Esther M. Verheyen   +4 more
wiley   +1 more source

Short bowel syndrome-associated intestinal failure patient experience: A mixed-method study leveraging an online patient community. [PDF]

Nutr Clin Pract
Chen BP, Feldman J, Gower M, Kirby M, Terreri B, McCue M, Mundi MS.   +6 more
europepmc   +1 more source