Results 171 to 180 of about 74,513 (285)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1821-1831, August 2026.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

RXR Gamma Enables Oligodendrocyte Differentiation by Suppressing Sonic Hedgehog Signaling. [PDF]

Glia
Baldassarro VA, Brassart Q, Fraulob V, Calzà L, Krezel W.   +4 more
europepmc   +1 more source

Sphingosine‐1‐Phosphate Receptor 1 Regulates Competition Dependent Astrocyte Morphogenesis and Tiling in Murine Cortex

Glia, Volume 74, Issue 8, August 2026.
Neuronal contact‐induced expression of S1PR1 in astrocytes is regulated by JAK‐STAT3 signaling. Astrocytic S1PR1 modulates cortical astrocyte morphogenesis. Astrocytic S1PR1 regulates astrocyte territorial overlap/tiling in a competition dependent manner.
Jean Patrick M. Gonzales, Connor Tuck, Surya Chandra Rao Thumu, Soha Munir, Jaden Harris, Hunain (Zeik) Tariq, Paul Marcelli, Oscar Dominguez, Kaviya Suriyakumar Anbazagan, Sandeep K. Singh   +9 more
wiley   +1 more source

Direct or indirect: the crucial role of N-palmitate in hedgehog signaling. [PDF]

Biochem Soc Trans
Puschmann J, Grobe K.
europepmc   +1 more source

Shh

netbib, 2001
openaire   +2 more sources

Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy

Clinical Genetics, Volume 110, Issue 2, Page 236-241, August 2026.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Subgroup-Specific Associations of GRIA Genes Encoding AMPA Glutamate Receptor Subunits with Patient Survival in Medulloblastoma. [PDF]

Neuromolecular Med
Saciloto B, Dalmolin M, Marcolin JC, Lichtenfels M, Vanini J, Roesler IBS, Ribas Filho JM, Malafaia O, Fernandes MAC, de Farias CB, Thomaz A, Roesler R, Isolan GR.   +12 more
europepmc   +1 more source

Odontogenic Keratocysts Don't Harbor BRAF Mutation: A Genetic and Immunohistochemical Analysis

Oral Diseases, EarlyView.
Raisa Severino‐Lazo, Jéssica da Silva Cunha, Allan Vinícius Martins‐de‐Barros, Karina Helen Martins, Adauto Gomes Barbosa Neto, Jorge Esquiche León, Marianne de Vasconcelos Carvalho   +6 more
wiley   +1 more source

Etymology and entomology: The semiotics and ethics of multispecies gene nomenclatures

Journal of Linguistic Anthropology, Volume 36, Issue 2, August 2026.
Abstract This article examines controversies surrounding gene names that are perceived as humorous in the context of fruit flies but are considered rude in the clinical context of human medicine. Drawing on ethnographic fieldwork in insect laboratories, interviews with entomologists and geneticists, and an analysis of scientific and clinical ...
Colin M. E. Halverson
wiley   +1 more source

GPC6 facilitates progression of SHH-subgroup medulloblastoma by enhancing Hedgehog secretion and signaling responses. [PDF]

J Biomed Res
Wang Y, Meng Q, Zhu Q, Zhang X, Wang X, He J, Cai J, Pu X, Ai Z, Li Q, Pu K, Yu T, Liu C, Yue S.   +13 more
europepmc   +1 more source