Results 211 to 220 of about 12,876 (273)

Engaging patient-led rare disease organizations to advance research - through the lens of Bardet-Biedl syndrome. [PDF]

J Cell Sci
Ogden T, de Graaf B, Hymers T.
europepmc   +1 more source

Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes. [PDF]

Nat Commun
Mollica A, Omer S, Forguson G, Steiman S, Evagelou SL, Naumenko S, Walker S, Li LY, Teeling A, Lindsay K, Erwood S, Visuvanathan S, Vig A, Vernon RM, Akman B, Smith-Hicks C, Forman-Kay JD, Shroff M, Pai V, Harrison RE, Cohn RD, Ivakine EA.   +21 more
europepmc   +1 more source

Compartmentalized nutrient and hormone sensing in β-cells: the role of cilia. [PDF]

Physiology (Bethesda)
Hughes JW, Merrins MJ.
europepmc   +1 more source

IFT139 regulates Hedgehog signaling and cilia structure through ciliary protein localization. [PDF]

Biol Open
Nishat K, Klug Z, Faimma Mia J, Stump SM, Cherry Liu Y.   +4 more
europepmc   +1 more source

Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report. [PDF]

J Med Case Rep
Demirtas İ, Bek SG.
europepmc   +1 more source

Identification of conserved residues essential for the ciliogenic functions of WDPCP.

Dis Model Mech
Choi YJ, Hwang S, Lee C, Zeng H, Chen X, Jo U, Kim H, Liu A, Park D, Wallingford JB, Chen J.   +10 more
europepmc   +1 more source

Tulp3 deficiency results in ciliopathy phenotypes during zebrafish embryogenesis. [PDF]

Sci Rep
Epting D, Devane J, Mertes R, Kayser S, Helmstädter M, Metzger P, Boerries M, Bergmann C, Ott E.   +8 more
europepmc   +1 more source

In situ proximity ligation assay for analysing spatial interactions between ciliary proteins. [PDF]

BMC Mol Cell Biol
Pfirrmann T, Rüther U, Gerhardt C.
europepmc   +1 more source

The ciliopathy protein SANS (Usher syndrome 1G) regulates pre-mRNA splicing by facilitating the maturation of the spliceosomal tri-snRNP complex.

, 2019
Adem Yıldırım, Sina Mozaffari‐Jovin, Ann-Kathrin Wallisch, Jessica Ries, Henning Urlaub, Reinhard Lührmann, Uwe Wolfrum   +6 more
openalex   +1 more source

New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication. [PDF]

Reports (MDPI)
Furuta Y, Nelson ET, Tinker RJ, Grochowsky AR.   +3 more
europepmc   +1 more source