Results 281 to 290 of about 858,934 (375)

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Oral food challenge with a mix of tree nuts to partially liberalize the diet in pediatric IgE-mediated tree nut allergy

Giulia Camarda, Sonia Morano, Laura Venditto, Laura Tenero, Giuliana Ferrante, Giorgio Piacentini, Luca Pecoraro   +6 more
openalex   +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

An ultra‐processed food‐based cafeteria diet induces obesity, metabolic dysfunction, and tissue‐specific gene dysregulation in C57BL/6 mice

Animal Models and Experimental Medicine, EarlyView.
This schematic figure illustrates the experimental design and key findings of the study. Forty male C57BL/6 mice were assigned to either a standard diet control group or a cafeteria diet (CAFD) group for 16 weeks. CAFD induces obesity, insulin resistance (HOMA‐IR), hepatic steatosis, and dysregulation of a number of genes in visceral and subcutaneous ...
Guilherme Coutinho Kullmann Duarte, Daisy Crispim, Shiva Cerutti Wittée, Joana Raquel Nunes Lemos, Natalia Emerim Lemos, Mayara Souza de Oliveira, Melissa Daniele Alves, Eloísa Toscan Massignam, Tais Silveira Assmann, Felipe Mateus Pellenz   +9 more
wiley   +1 more source

Law & Healthcare Newsletter, v. 22, no. 2, Spring 2015 [PDF]

, 2015

core   +1 more source

Sex as a biological variable in nonclinical studies: Bridging scientific rigor, animal welfare, and regulatory expectations

Animal Models and Experimental Medicine, EarlyView.
Sex as a biological variable (SABV) is a critical determinant of pharmacokinetics, pharmacodynamics, and toxicity in nonclinical studies. This review highlights how inappropriate neglect of sex differences compromises animal welfare, scientific reproducibility, and regulatory compliance.
Kenta Onuma, Masaki Watanabe, Nobuya Sasaki   +2 more
wiley   +1 more source

Designing an Incremental Egg Oral Immunotherapy Protocol: A Strategic Approach with Safety as a Priority. [PDF]

J Asthma Allergy
Munyuen D, Yuenyongviwat A, Sangsupawanich P, Chauikaew K, Srisuk B, Chanklay T, Koosakulchai V.   +6 more
europepmc   +1 more source

Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles

Advanced NanoBiomed Research, EarlyView.
This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley   +1 more source

Confronting fear and uncertainty: adults' experiences of undergoing a food challenge test for food allergy. [PDF]

Int J Qual Stud Health Well-being
Makatsori M, Miles A.
europepmc   +1 more source