Results 211 to 220 of about 128,344 (306)

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy. [PDF]

Am J Hum Genet
Moye AR, McCafferty CL, Lin S, Han JH, Dudakova L, Rodenburg K, Szabó V, Nagy ZZ, Zur D, Vajter M, Kousal B, Moulin AP, Graff-Meyer A, Roosing S, Mahroo OA, Arno G, Webster AR, Ben-Yosef T, Liskova P, Engel BD, Zobor D, Quinodoz M, Rivolta C.   +22 more
europepmc   +1 more source

Optic nerve sheath meningioma exhibits neural niche‐associated transcriptomic features and rare copy number variation‐linked evolution

Brain Pathology, EarlyView.
Optic nerve sheath meningiomas are typically NF2‐intact with few copy number alterations and are generally clinically indolent. Rare aggressive recurrences are associated with progressive accumulation of copy number variations, including CDKN2A/B homozygous deletion, 1q gain, and 14q loss.
Daisuke Sato, Satoru Miyawaki, Yu Sakai, Kenta Ohara, Yu Teranishi, Yudai Hirano, Motoyuki Umekawa, Takahiro Tsuchiya, Shotaro Ogawa, So Hirata, Hiroki Hongo, Hideaki Ono, Daisuke Komura, Tetsuo Ushiku, Shumpei Ishikawa, Nobuhito Saito   +15 more
wiley   +1 more source

The potential for biased signalling in the P2Y receptor family of GPCRs

British Journal of Pharmacology, EarlyView.
The purinergic receptor family is primarily activated by nucleotides, and contains members of both the G protein coupled‐receptor (GPCR) superfamily (P1 and P2Y) and ligand‐gated ion channels (P2X). The P2Y receptors are widely expressed in the human body, and given the ubiquitous nature of nucleotides, purinergic signalling is involved with a plethora
Claudia M. Sisk, Simon Pitchford, Graham Ladds   +2 more
wiley   +1 more source

Neural connectome of the ctenophore statocyst. [PDF]

Elife
Jokura K, Jasek S, Niederhaus L, Burkhardt P, Jékely G.   +4 more
europepmc   +1 more source

Bacteria deliver a microtubule-binding protein into mammalian cells to promote colonization. [PDF]

Science
Costello MS, Neumann B, Raimondi MW, Cuthbert BJ, Holubová J, Garza-Sánchez F, Samad A, Bumba L, Torres JA, Holznecht N, Mendoza J, Stanek O, Prombhul S, Weimbs T, Morrissey MA, Acosta-Alvear D, Low DA, Šebo P, Goulding CW, Gonen S, Hayes CS.   +20 more
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease. [PDF]

Kidney Int
Yang C, Harafuji N, Watts JA, Tao B, Moran C, Clements J, Price K, Laucevicius A, Burrill N, Gebb J, Soni S, Oliver E, Savla JJ, Christ L, Moldenhauer J, Hartung EA, Didier R, Santani A, Sandford RN, Selkirk L, Radley JA, Mann K, Simonicova I, Karl R, Kariat Ashraf AP, Wachten D, Wilson L, Bebok Z, Caldovic L, Guay-Woodford LM.   +29 more
europepmc   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
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

Neddylation relieves cytoskeletal tension to permit primary cilia formation during mouse decidualization. [PDF]

Cell Commun Signal
Zhou C, He YY, Yao WX, Li Y, Li B.
europepmc   +1 more source

Loss-of-function variants in ODAD1 disrupt ODA docking and induce actin cytoskeletal remodeling in primary ciliary dyskinesia. [PDF]

Cell Discov
Huo C, Luo T, Yang S, Jiang Y, Guo M, Yang F, Xu Z, Xia J, Wu L, Xu W, Gui M, Zhou T, Xie S.   +12 more
europepmc   +1 more source