Results 211 to 220 of about 42,857 (292)
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard +3 more
wiley +1 more source
Configuration-Level Genetic Interpretation in Neurodevelopmental Disorders: A Single-Center Cohort of 2162 Children in China. [PDF]
Li L +5 more
europepmc +1 more source
Abstract The olfactory placode (OP) generates a broad array of chemosensory neurons in the nasal region, including olfactory sensory neurons, vomeronasal sensory neurons, neurons of the septal organ, and Grueneberg ganglion. During invagination, the OP also generates migratory neuronal populations, including gonadotropin‐releasing hormone‐1 (GnRH‐1 ...
Enrico Amato Jr. +5 more
wiley +1 more source
Case Report: Mixed gonadal dysgenesis with Müllerian remnants mimicking a prostatic utricle in a child with 45,X/46,XY/47,XYY mosaicism. [PDF]
Zhang S, Zhou C, Liu D.
europepmc +1 more source
Abstract Background Developmental control of jaw size is crucial to prevent birth defects and facilitate evolutionary adaptation. We have shown that jaw size is established by neural crest mesenchyme (NCM), which are progenitor cells that migrate into the mandibular primordia and produce the jaws.
Zuzana Vavrušová +5 more
wiley +1 more source
Somatic Mosaic <i>AXIN2</i>-associated Colonic Polyposis Predominantly Involving the Proximal Colon: A Case Report. [PDF]
Murakami T +9 more
europepmc +1 more source
Diagnostic Lag in Precision Medicine
Clinical Pharmacology &Therapeutics, EarlyView.
Petr Heneberg
wiley +1 more source
Abstract Background Transcription factors of the MIT/TFE family—mitfa, mitfb, and tfec—play essential roles in specifying pigment cells derived from neural crest cells in vertebrates. In teleosts, which possess multiple pigment cell types, these factors exhibit partially redundant but largely distinct functions across different pigment lineages.
James Lister +13 more
wiley +1 more source
Segmental Vitiligo and Somatic Mosaicism: From Pathogenesis to Therapeutics. [PDF]
Oh J, Oh SH.
europepmc +1 more source
Predator–prey interactions are vital to ecosystem functioning but may be disrupted by climate change. We investigated a food‐web network involving three owl species over 24 years in a semi‐arid ecosystem at Bosque Fray Jorge National Park, Chile.
Jazmin M. Quiroz‐Calizaya +12 more
wiley +1 more source

