Results 261 to 270 of about 53,999 (295)

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

open access: yesClinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam   +9 more
wiley   +1 more source

Evaluation of Small Airways Dysfunction With Dupilumab Using Airway Oscillometry in Uncontrolled Severe Asthma

open access: yes
Clinical &Experimental Allergy, Volume 55, Issue 3, Page 264-266, March 2025.
Kirsten E. Stewart   +3 more
wiley   +1 more source

Tet2 loss and enhanced ciliogenesis suppress α-synuclein pathology. [PDF]

open access: yesActa Neuropathol Commun
Quansah E   +16 more
europepmc   +1 more source

A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification. [PDF]

open access: yesNat Commun
Wiegering A   +12 more
europepmc   +1 more source

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