Siliopatiler

Braun DA Hildebrandt F. Ciliopathies. Cold Spring Harb Perspect Biol. 2017;9(3).

Satir P. CILIA: before and after. Cilia. 2017; 6:1.

Braun DA Hildebrandt F. Ciliopathies. Cold Spring Harb Perspect Biol. 2017;9(3).

Derderian C, Canales GI, Reiter JF. Seriously cilia: A tiny organelle illuminates evolution, disease, and intercellular communication. Dev Cell. 2023;58(15):1333-49.

Stoufflet J, Caille I. The Primary Cilium and Neuronal Migration. Cells. 2022;11(21).

Arora S, Rana M, Sachdev A, D'Souza JS. Appearing and disappearing acts of cilia. J Biosci. 2023;48(1).

Goetz SC, Anderson KV. The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet. 2010;11(5):331-44.

Lechtreck K. Cargo adapters expand the transport range of intraflagellar transport. J Cell Sci. 2022;135(24).

Mitchison HM, Valente EM. Motile and non-motile cilia in human pathology: from function to phenotypes. J Pathol. 2017;241(2):294-309.

Anvarian Z, Mykytyn K, Mukhopadhyay S, Pedersen LB, Christensen ST. Cellular signalling by primary cilia in development, organ function and disease. Nat Rev Nephrol. 2019;15(4):199-219.

Grigoryan T, Wend P, Klaus A, Birchmeier W. Deciphering the function of canonical Wnt signals in development and disease: conditional loss- and gain-of-function mutations of beta-catenin in mice. Genes Dev. 2008;22(17):2308-41.

Nishimura Y, Kasahara K, Shiromizu T, Watanabe M, Inagaki M. Primary Cilia as Signaling Hubs in Health and Disease. Adv Sci (Weinh). 2019;6(1):1801138.

Hilgendorf KI, Johnson CT, Jackson PK. The primary cilium as a cellular receiver: organizing ciliary GPCR signaling. Curr Opin Cell Biol. 2016; 39:84-92.

Ezratty EJ, Stokes N, Chai S, Shah AS, Williams SE, Fuchs E. A role for the primary cilium in Notch signaling and epidermal differentiation during skin development. Cell. 2011;145(7):1129-41.

Clement CA, Ajbro KD, Koefoed K, Vestergaard ML, Veland IR, Henriques de Jesus MP, et al. TGF-beta signaling is associated with endocytosis at the pocket region of the primary cilium. Cell Rep. 2013;3(6):1806-14.

Focsa IO, Budisteanu M, Balgradean M. Clinical and genetic heterogeneity of primary ciliopathies (Review). Int J Mol Med. 2021;48(3).

Boehlke C, Kotsis F, Patel V, Braeg S, Voelker H, Bredt S, et al. Primary cilia regulate mTORC1 activity and cell size through Lkb1. Nat Cell Biol. 2010;12(11):1115-22.

Ferkol TW, Leigh MW. Ciliopathies: the central role of cilia in a spectrum of pediatric disorders. J Pediatr. 2012;160(3):366-71.

Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, et al. Motile ciliopathies. Nat Rev Dis Primers. 2020;6(1):77.

Raidt J, Loges NT, Olbrich H, Wallmeier J, Pennekamp P, Omran H. Primary ciliary dyskinesia. Presse Med. 2023;52(3):104171.

Hyland RM, Brody SL. Impact of Motile Ciliopathies on Human Development and Clinical Consequences in the Newborn. Cells. 2021;11(1).

Arts HH, Knoers NV. Current insights into renal ciliopathies: what can genetics teach us? Pediatr Nephrol. 2013;28(6):863-74.

Burgmaier K, Broekaert IJ, Liebau MC. Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management. Adv Kidney Dis Health. 2023;30(5):468-76.

Wolf MTF, Bonsib SM, Larsen CP, Hildebrandt F. Nephronophthisis: a pathological and genetic perspective. Pediatr Nephrol. 2023

Kamde SP, Anjankar A. Retinitis Pigmentosa: Pathogenesis, Diagnostic Findings, and Treatment. Cureus. 2023;15(10):e48006

Kumaran N, Pennesi ME, Yang P, Trzupek KM, Schlechter C, Moore AT, et al. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al., editors. GeneReviews((R)). Seattle (WA)1993.

Lai B, Jiang H, Gao Y, Zhou X. Skeletal ciliopathy: pathogenesis and related signaling pathways. Mol Cell Biochem. 2023.

Baujat G, Le Merrer M. Ellis-van Creveld syndrome. Orphanet J Rare Dis. 2007; 2:27.

O'Connor MB, Gallagher DP, Mulloy E. Jeune syndrome. Postgrad Med J. 2008;84(996):559.

Handa A, Voss U, Hammarsjo A, Grigelioniene G, Nishimura G. Skeletal ciliopathies: a pattern recognition approach. Jpn J Radiol. 2020;38(3):193-206.

Gurrieri F, Franco B, Toriello H, Neri G. Oral-facial-digital syndromes: review and diagnostic guidelines. Am J Med Genet A. 2007;143A(24):3314-23.

Huber C, Cormier-Daire V. Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet. 2012;160C(3):165-74.

Forsyth R, Gunay-Aygun M. Bardet-Biedl Syndrome Overview. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al., editors. GeneReviews((R)). Seattle (WA)1993.

Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, et al. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat. 2011;32(6):610-9.

Paisey RB, Steeds R, Barrett T, Williams D, Geberhiwot T, Gunay-Aygun M. Alstrom Syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al., editors. GeneReviews((R)). Seattle (WA)1993.

Valente EM, Brancati F, Dallapiccola B. Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 2008;51(1):1-23.

Van De Weghe JC, Gomez A, Doherty D. The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies. Annu Rev Genomics Hum Genet. 2022; 23:301-29.

Slavotinek AM. McKusick-Kaufman Syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al., editors. GeneReviews((R)). Seattle (WA)1993.