Reference
[1] Elliott KH, Brugmann SA. Sending mixed signals: Cilia-dependent signaling during development and disease.Developmental biology. 2019; 447:28-41.http://www.ncbi.nlm.nih.gov/pubmed/29548942
[2] Goetz SC, Anderson KV. The primary cilium: a signalling centre during vertebrate development. Nature reviews. Genetics. 2010; 11:331-344.http://www.ncbi.nlm.nih.gov/pubmed/20395968
[3] Christensen ST, Morthorst SK, Mogensen JB, Pedersen LB.Primary Cilia and Coordination of Receptor Tyrosine Kinase (RTK) and Transforming Growth Factor beta (TGF-beta) Signaling. Cold Spring Harbor perspectives in biology. 2017;9 .http://www.ncbi.nlm.nih.gov/pubmed/27638178
[4] Goggolidou P. Wnt and planar cell polarity signaling in cystic renal disease. Organogenesis. 2014; 10:86-95.http://www.ncbi.nlm.nih.gov/pubmed/24162855
[5] Gleeson JELaJG. A systems-biology approach to understanding the ciliopathy disorders. Genome Medicine. 2011;3: 1-9.
[6] McInerney-Leo AM, Wheeler L, Marshall MS, Anderson LK, Zankl A, Brown MA, Leo PJ, Wicking C, Duncan EL. Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. American journal of medical genetics. Part A. 2017; 173:1698-1704.http://www.ncbi.nlm.nih.gov/pubmed/28422394
[7] Chen CP, Ko TM, Chang TY, Chern SR, Chen SW, Lai ST, Chuang TY, Wang W. Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus. Taiwanese journal of obstetrics & gynecology. 2018;57: 123-127.http://www.ncbi.nlm.nih.gov/pubmed/29458881
[8] Wang L, Dynlacht BD. The regulation of cilium assembly and disassembly in development and disease. Development. 2018;145 .http://www.ncbi.nlm.nih.gov/pubmed/30224385
[9] Jeune M BC, Carron R. Asphyxiating thoracic dystrophy with familial characteristics. Arch Fr Pediatr. 1955; 12:886–91 .
[10] Handa A, Voss U, Hammarsjo A, Grigelioniene G, Nishimura G. Skeletal ciliopathies: a pattern recognition approach.Japanese journal of radiology. 2020; 38:193-206.http://www.ncbi.nlm.nih.gov/pubmed/31965514
[11] Oud MM, Latour BL, Bakey Z, Letteboer SJ, Lugtenberg D, Wu KM, Cornelissen EAM, Yntema HG, Schmidts M, Roepman R, Bongers E.Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis.Cilia. 2018; 7:1.http://www.ncbi.nlm.nih.gov/pubmed/30479745
[12] Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. American journal of medical genetics. Part A. 2013; 161A:2762-2776.http://www.ncbi.nlm.nih.gov/pubmed/24123776
[13] Cossu C, Incani F, Serra ML, Coiana A, Crisponi G, Boccone L, Rosatelli MC. New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. Clinica chimica acta; international journal of clinical chemistry. 2016; 455:172-180.http://www.ncbi.nlm.nih.gov/pubmed/26874042
[14] Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. Journal of medical genetics. 2013; 50:91-98.http://www.ncbi.nlm.nih.gov/pubmed/23339108
[15] Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elcioglu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL, Uk10K, Knoers NV, Roepman R, Mitchison HM. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. Journal of medical genetics. 2013; 50:309-323.http://www.ncbi.nlm.nih.gov/pubmed/23456818
[16] McInerney-Leo AM, Harris JE, Leo PJ, Marshall MS, Gardiner B, Kinning E, Leong HY, McKenzie F, Ong WP, Vodopiutz J, Wicking C, Brown MA, Zankl A, Duncan EL. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clinical genetics. 2015;88: 550-557.http://www.ncbi.nlm.nih.gov/pubmed/25492405
[17] McInerney-Leo AM, Schmidts M, Cortes CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M, Consortium UK, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. American journal of human genetics. 2013;93: 515-523.http://www.ncbi.nlm.nih.gov/pubmed/23910462
[18] Patel-King RS, Gilberti RM, Hom EF, King SM. WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia. Molecular biology of the cell. 2013;24: 2668-2677.http://www.ncbi.nlm.nih.gov/pubmed/23864713
[19] Toropova K, Zalyte R, Mukhopadhyay AG, Mladenov M, Carter AP, Roberts AJ. Structure of the dynein-2 complex and its assembly with intraflagellar transport trains. Nature structural & molecular biology. 2019; 26:823-829.http://www.ncbi.nlm.nih.gov/pubmed/31451806
[20] Kakar N, Horn D, Decker E, Sowada N, Kubisch C, Ahmad J, Borck G, Bergmann C. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.American journal of medical genetics. Part A. 2018; 176:438-442.http://www.ncbi.nlm.nih.gov/pubmed/29271569
[21] Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, Consortium UK, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Human molecular genetics. 2015; 24:1410-1419.http://www.ncbi.nlm.nih.gov/pubmed/25361962
[22] Kessler K, Wunderlich I, Uebe S, Falk NS, Giessl A, Brandstatter JH, Popp B, Klinger P, Ekici AB, Sticht H, Dorr HG, Reis A, Roepman R, Seemanova E, Thiel CT. DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. Scientific reports. 2015;5: 11649.http://www.ncbi.nlm.nih.gov/pubmed/26130459
[23] Rix S, Calmont A, Scambler PJ, Beales PL. An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. Human molecular genetics. 2011; 20:1306-1314.http://www.ncbi.nlm.nih.gov/pubmed/21227999
[24] D’Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A.Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. European journal of medical genetics. 2013; 56:80-87.http://www.ncbi.nlm.nih.gov/pubmed/23220543
[25] Tuysuz B, Baris S, Aksoy F, Madazli R, Ungur S, Sever L.Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. American journal of medical genetics. Part A. 2009; 149A:1727-1733.http://www.ncbi.nlm.nih.gov/pubmed/19610081