Results 171 to 180 of about 234,487 (302)

Siblings With Duchenne Muscular Dystrophy: Exploring Diagnosis Age and Disease Progression in a Genetic Therapy‐Naïve Cohort

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Duchenne muscular dystrophy (DMD) is the most common pediatric muscular dystrophy. Typically, there is a ~ 2‐year delay between symptom onset and diagnosis. Limited data on outcomes in early‐diagnosed individuals have limited the understanding of the clinical impact of early diagnosis.
Vaishnavi Brahmamdam, Cuixia Tian, Niki Armstrong, Valentina Pilipenko, Lisa J. Martin, Alexander Zygmunt, Irina Rybalsky, Lisa Reebals, Chinmayee B. Nagaraj   +8 more
wiley   +1 more source

Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants. [PDF]

Hum Mutat
Amzaleg Y, McDonnell KJ, Idos GE, Mathai C, Gray SW, Hampel H, Craig DW.   +6 more
europepmc   +1 more source

Maternal and Neonatal Complications Associated with Breast Cancer Systemic Treatments—A VigiBase Disproportionality Analysis Study

Clinical Pharmacology &Therapeutics, EarlyView.
Pregnancy‐associated breast cancer (PrBC) presents therapeutic challenges. Understanding maternal–fetal safety of systemic anticancer therapies is critical. We performed a case/non‐case disproportionality analysis using the WHO global pharmacovigilance database up to January 2024, to evaluate maternal–fetal outcomes associated with breast cancer (BC ...
Rayan Kabirian, Floriane Jochum, Elise Dumas, Florence Coussy, Kevin Bihan, Bénédicte Lebrun‐Vignes, Barbara Pistilli, Marc‐Antoine Benderra, Lise Selleret, Laurent Chouchana, Fabien Reyal, Anne‐Sophie Hamy, Paul Gougis   +12 more
wiley   +1 more source

Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort. [PDF]

Nat Commun
Taylan F, Staffas A, Sjögren S, Lagerstedt-Robinson K, Kuchinskaya E, Poluha A, Ivarsson S, Hellberg M, Klar J, Abel F, Abrahamsson J, Pronk CJ, Belander Strålin K, Harila A, Vogt H, Norén-Nyström U, Grillner P, Palmqvist L, Arvidsson L, Pandzic T, Bondeson ML, Mu N, Ekholm K, Anderlid BM, Golovleva I, Maya-González C, Gideonsson P, Tham E, Barbany G, Lähteenmäki P, Sandgren J, Rosenquist R, Wirta V, Ljungman G, Gisselsson D, Palle J, Tesi B, Nordgren A.   +37 more
europepmc   +1 more source

Biography as the Missing Variable in Drug Development: A Case for Bio‐Biographical Mechanistic Profiling

Clinical Pharmacology &Therapeutics, EarlyView.
Most clinical trial failures reflect unmeasured biological heterogeneity. Biography — chronic stress, adversity, trauma, and social isolation—is a neglected source of that heterogeneity, operating through the same molecular pathways drugs engage.
Ralph I. Horwitz
wiley   +1 more source

Germline recombination by conditional gene targeting with Parvalbumin-Cre lines

Frontiers in Neural Circuits, 2013
Yohei eKobayashi, Yohei eKobayashi, Takao K. Hensch, Takao K. Hensch   +3 more
doaj   +1 more source

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer. [PDF]

Hum Genet
Vlaming M, Kiemeney LALM, Koole W, van Oort IM, Bleiker EMA, Ausems MGEM, Frederix GWJ.   +6 more
europepmc   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Clinical Utility of Germline Whole-Exome Sequencing Beyond Multigene Panels in Hereditary Cancer. [PDF]

Genes (Basel)
Dell'Elice A, Lombardi L, Anaclerio F, Palmarini C, Canale N, Secondi L, Stratta G, Vitali M, Tavoletta MS, Grossi S, Babore A, Milillo C, Dovizio M, Ballerini P, Gatta V, Stuppia L, Antonucci I.   +16 more
europepmc   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source