Results 211 to 220 of about 40,656 (278)

NR6A1 is essential for neural crest cell specification, formation and survival. [PDF]

Nat Commun
Moore Zajic EL, Muñoz WA, Dennis JF, Bhatt S, Sakai D, Achilleos A, Zhao R, Lamb M, Price AJ, Seidel C, Tiana M, Barral A, Clawson D, Manzanares M, Trainor PA.   +14 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Developmental dynamics of catshark cranial neural crest cells provide insights into gnathostome facial evolution. [PDF]

Development
Escamilla-Vega E, Murillo-Rincón AP, Seton LWG, Koch AK, Kyomen S, Fortmann-Grote C, Hammel JU, Moritz T, Kaucká M.   +8 more
europepmc   +1 more source

Generation and characterization of induced pluripotent stem cell (iPSC) lines from patients affected with Tay-Sachs and Sandhoff disease. [PDF]

Stem Cell Res
Jovanovic VM, Chen CZ, Toro C, Hurd KA, Zou J, Tifft CJ, Zheng W, Henderson MJ, Marugan J, Tristan CA.   +9 more
europepmc   +1 more source

Ectodermal dysplasias.

Journal of the All-India Ophthalmological Society, 1968
openaire   +2 more sources

Dynamic and non-uniform expression of key transcription factors provides insights into the emergence of neural crest cells at the neural plate border. [PDF]

Development
Montequin A, LaBonne C.
europepmc   +1 more source

The query of ectodermal ectopia

Oman Journal of Ophthalmology, 2013
openaire   +3 more sources

Congenital Ectodermal Dysplasia [PDF]

British Journal of Ophthalmology, 1955
openaire   +2 more sources

Specialized signaling centers direct cell fate and spatial organization in a mesodermal organoid model. [PDF]

Sci Adv
Skoufa E, Zhong J, Hu K, Kahre O, Tsissios G, Carrau L, Herrera A, Dominguez Mantes A, Leleu M, Castilla-Ibeas A, Jang H, Weigert M, La Manno G, Lutolf M, Ros M, Aztekin C.   +15 more
europepmc   +1 more source