Results 121 to 130 of about 13,071 (247)

Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism. [PDF]

Genet Med Open, 2023
Cao Y, Evenson MJ, Corliss MM, Schroeder MC, Heusel JW, Neidich JA.   +5 more
europepmc   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
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, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

Goofy/123Cre lineage tracing differentiates olfactory and vomeronasal neurons from GnRH‐1 and terminal nerve neurons during neuronal migration and reveals additional olfactory placode‐derived cells in the brain

Developmental Dynamics, EarlyView.
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., Mia V. Call, Noah M. LeFever, Mya Aviles‐Carlos, Nikki M. Dolphin, Paolo E. Forni   +5 more
wiley   +1 more source

Somatic mosaicism reveals clonal distributions of neocortical development. [PDF]

Nature, 2022
Breuss MW, Yang X, Schlachetzki JCM, Antaki D, Lana AJ, Xu X, Chung C, Chai G, Stanley V, Song Q, Newmeyer TF, Nguyen A, O'Brien S, Hoeksema MA, Cao B, Nott A, McEvoy-Venneri J, Pasillas MP, Barton ST, Copeland BR, Nahas S, Van Der Kraan L, Ding Y, NIMH Brain Somatic Mosaicism Network, Glass CK, Gleeson JG.   +25 more
europepmc   +1 more source

Differential sensitivity to SHH signaling and neural crest‐mediated Gas1 expression regulate jaw size during development and evolution

Developmental Dynamics, EarlyView.
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, Daniel B. Chu, An Nguyen, Yeniko Ta, Jennifer L. Fish, Richard A. Schneider   +5 more
wiley   +1 more source

From Policy Presence to Policy Performance: Adaptive Improvisation and the Everyday Politics of Plastic Burning Bans in Rural Indonesia

Environmental Policy and Governance, EarlyView.
ABSTRACT Open burning plastics is a major environmental health hazard in low‐ and middle‐income countries, releasing toxic pollutants and exacerbating climate change. Although Indonesia prohibits plastic burning, enforcement in rural settings remains fragile.
Sujarwoto Sujarwoto, Sekar Aqila Salsabila, Devita Rahmani Ratri, Asri Maharani   +3 more
wiley   +1 more source

Segmental Vitiligo and Somatic Mosaicism: From Pathogenesis to Therapeutics. [PDF]

Ann Dermatol
Oh J, Oh SH.
europepmc   +1 more source

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

Somatic Mosaicism of EPAS1 Mutations in Pacak-Zhuang Syndrome. [PDF]

Endocr Pract, 2022
Wang H, Zhuang Z, Rosenblum JS, Pacak K.
europepmc   +1 more source

Diagnostic Lag in Precision Medicine

Clinical Pharmacology &Therapeutics, EarlyView.
Petr Heneberg
wiley   +1 more source