Results 131 to 140 of about 9,546 (191)

Hyperglycemic stress aggravates diabetic retinopathy and nephropathy by promoting cilium disassembly via a deacetylation- and methylation-mediated regulatory mechanism. [PDF]

PLoS Biol
Ran J, Wei C, Yang Y, Zhang Y, Guo G, Ma N, Yin L, Fan H, Li J, Guo H, Zhang R, Wang R, Li D, Liu M.   +13 more
europepmc   +1 more source

Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome. [PDF]

Mol Genet Metab Rep
Khalilian S, Fathi M, Farbood Z, Dehghanian F, Masoudi M, Ghafouri-Fard S, Dastgheib SA, Miryounesi M.   +7 more
europepmc   +1 more source

NIMA-related kinase family at the nexus of skeletal development and congenital arthrogryposis: coordinated regulation of cell cycle and ciliary dynamics. [PDF]

Front Genet
Zhao Y, Zheng Y, Chen Q, Yang Y, Zhang L.   +4 more
europepmc   +1 more source

Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies. [PDF]

J Cell Sci
Bachmann-Gagescu R, Sayer JA.
europepmc   +1 more source

The EH-binding protein EHBP1 operates in a ciliary functional module affected by INPP5E dysfunction. [PDF]

J Cell Sci
Whiting KR, Aslanyan M, Peters I, Letteboer S, Lamers IJC, Jarboui MA, Beyer T, Dahlke K, Boldt K, Roepman R.   +9 more
europepmc   +1 more source

Restoring the Balance: CRISPRa-Driven β-Tubulin Compensation as a Strategy for Tubulinopathy Treatment. [PDF]

Int J Mol Sci
Steiman S, Kinsella C, Zhang Y, Omer S, Brown C, Forguson G, Elbakr L, Pastore S, Ivakine EA.   +8 more
europepmc   +1 more source

COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts. [PDF]

Genome Med
Favier A, Chounta S, Garcia A, Jabot-Hanin F, Chen X, Garcelon N, Burgun A, Higueras M, Guilloux A, Benmerah A, Martin Y, Billot K, Rozet JM, Perrault I, Cormier-Daire V, Huber C, Zaidan M, Attie-Bitach T, Saunier S, Rausell A.   +19 more
europepmc   +1 more source

Author Profile: Mingyu Pan. [PDF]

Cytoskeleton (Hoboken)
Pan M.
europepmc   +1 more source

Knockdown of <i>armc3</i> Impairs Motile Cilia Function in <i>Schmidtea mediterranea</i>. [PDF]

MicroPubl Biol
Gogoi C, Pitt R, Mazur K, Naraharisetti R, Johnson K.   +4 more
europepmc   +1 more source

IFT43-Related Cranioectodermal Dysplasia Type 3: Clinical and Molecular Insights from the First Reported Turkish Patient. [PDF]

Mol Syndromol
Kocagil S, Gölcür H, Aynacı S, Çilingir O.   +3 more
europepmc   +1 more source