Genetic spectrum and genotype–phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.

Authors: Dong, Meihua¹ (AUTHOR), Shi, Xu¹ (AUTHOR), Zhou, Yawen¹ (AUTHOR), Duan, Jielin¹ (AUTHOR), He, Li¹ (AUTHOR), Song, Xiaonan¹ (AUTHOR), Huang, Zhiwen¹ (AUTHOR), Chen, Ruchong¹ (AUTHOR) chen_rch@163.com, Li, Jing¹ (AUTHOR) lijing@gird.cn, Jia, Nan¹ (AUTHOR) jianan@gzhmu.edu.cn

Source: Orphanet Journal of Rare Diseases. 3/3/2025, Vol. 20 Issue 1, p1-13. 13p.

Subject Terms: *CILIOPATHY, *GENETIC variation, *SYMPTOMS, *FRAMESHIFT mutation, *CILIARY motility disorders, *MISSENSE mutation, *PHENOTYPIC plasticity, *GENES

The dominant findings of a recessive man: from Mendel's kid pea to kidney.

Authors: Tory, Kálmán^1,2 tory.kalman@med.semmelweis-univ.hu

Source: Pediatric Nephrology. Jul2024, Vol. 39 Issue 7, p2049-2059. 11p.

Subject Terms: *MOLECULAR epidemiology, *CILIOPATHY, *PLANTS, *GENES, *EXPERIENCE, *KIDNEY diseases, *EPIDEMIOLOGY, *PHENOTYPES, *ALLELES, *EPIDEMIOLOGICAL research, *GENETICS, *STATISTICS

Syndromic ciliopathy: a taiwanese single-center study.

Authors: Pan, Yu-Wen¹ (AUTHOR), Ou, Tsung-Ying² (AUTHOR), Chou, Yen-Yin^1,3 (AUTHOR), Kuo, Pao-Lin^3,4,5 (AUTHOR), Hsiao, Hui-Pin⁶ (AUTHOR), Chiu, Pao-Chin⁷ (AUTHOR), Lin, Ju-Li⁸ (AUTHOR), Lo, Fu-Sung⁸ (AUTHOR), Wang, Chung-Hsing^9,10 (AUTHOR), Chen, Peng-Chieh^11,12 (AUTHOR) pengchic@mail.ncku.edu.tw, Tsai, Meng-Che^1,3,11 (AUTHOR) mengchets@gs.ncku.edu.tw

Source: BMC Medical Genomics. 4/26/2024, Vol. 17 Issue 1, p1-11. 11p.

Subject Terms: *CILIOPATHY, *JOUBERT syndrome, *LAURENCE-Moon-Biedl syndrome, *CONGENITAL disorders, *NONSENSE mutation, *INTELLECTUAL disabilities

Geographic Terms: TAIWAN

High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses.

Authors: Bozhinovski, Gjorgji¹, Terzikj, Marija¹, Kubelka-Sabit, Katerina^2,3, Plaseska-Karanfilska, Dijana¹ dijana@manu.edu.mk

Source: Balkan Medical Journal. Mar2024, Vol. 41 Issue 2, p97-104. 8p.

Subject Terms: *MISCARRIAGE, *CILIOPATHY, *RESEARCH funding, *POLYMERASE chain reaction, *GENETIC variation, *LONGITUDINAL method, *ALBANIANS, *CASE-control method, *JOUBERT syndrome, *ALLELES

Geographic Terms: NORTH Macedonia

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

Authors: Radhakrishnan, Periyasamy¹ (AUTHOR), Quadri, Neha¹ (AUTHOR), Erger, Florian^2,3 (AUTHOR), Fuhrmann, Nico³ (AUTHOR), Geist, Otilia‐Maria⁴ (AUTHOR), Netzer, Christian^2,3 (AUTHOR), Khyriem, Ibakordor¹ (AUTHOR), Muranjan, Mamta⁵ (AUTHOR), Udani, Vrajesh⁶ (AUTHOR), Yeole, Mayuri¹ (AUTHOR), Mascarenhas, Selinda¹ (AUTHOR), Limaye, Sanket¹ (AUTHOR), Siddiqui, Shahyan⁷ (AUTHOR), Upadhyai, Priyanka¹ (AUTHOR) priyanka.u@manipal.edu, Shukla, Anju¹ (AUTHOR) anju.shukla@manipal.edu

Source: Clinical Genetics. Mar2025, Vol. 107 Issue 3, p311-322. 12p.

Subject Terms: *NEUROLOGICAL disorders, *CILIOPATHY, *CENTROSOMES, *CILIA & ciliary motion, *PROTEINS, *NUCLEOTIDE sequencing, *GENETIC variation

Diseases of the primary cilia: a clinical characteristics review.

Authors: Alzarka, Bakri¹ balzarka@som.umaryland.edu, Charnaya, Olga², Gunay-Aygun, Meral³ mgunaya1@jhu.edu

Source: Pediatric Nephrology. Mar2025, Vol. 40 Issue 3, p611-627. 17p.

Subject Terms: *CILIOPATHY, *CILIARY motility disorders, *RETINAL diseases, *BRAIN, *CYSTIC kidney disease, *LAURENCE-Moon-Biedl syndrome, *ALSTROM syndrome, *OROFACIODIGITAL syndromes, *HUMAN body, *CELLS, *JOUBERT syndrome, *OBESITY

Approach to simple kidney cysts in children.

Authors: Dell, Katherine M.¹ kmd8@case.edu, Hartung, Erum A.²

Source: Pediatric Nephrology. Dec2024, Vol. 39 Issue 12, p3387-3395. 9p.

Subject Terms: *DIFFERENTIAL diagnosis, *CILIOPATHY, *DIVERTICULUM, *CYSTS (Pathology), *TUBEROUS sclerosis, *ULTRASONIC imaging, *MAGNETIC resonance imaging, *CYSTIC kidney disease, *POLYCYSTIC kidney disease, *PATIENT monitoring, *SYMPTOMS, *CHILDREN

Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.

Authors: Corral-Serrano, Julio C.¹ (AUTHOR) j.serrano@ucl.ac.uk, Sladen, Paul E.¹ (AUTHOR) daniele.ottaviani@unipd.it, Ottaviani, Daniele^1,2 (AUTHOR), Rezek, Olivia F.¹ (AUTHOR), Athanasiou, Dimitra¹ (AUTHOR), Jovanovic, Katarina¹ (AUTHOR), van der Spuy, Jacqueline¹ (AUTHOR), Mansfield, Brian C.³ (AUTHOR), Cheetham, Michael E.¹ (AUTHOR) j.serrano@ucl.ac.uk

Source: Cells (2073-4409). Jun2023, Vol. 12 Issue 12, p1575. 16p.

Subject Terms: *CILIOPATHY, *CILIA & ciliary motion, *PHOTORECEPTORS, *RETINAL diseases, *GENE expression, *RHODOPSIN, *ANTISENSE RNA

DCDC2 -Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases.

Authors: Lipiński, Patryk¹ (AUTHOR) p.lipinski@ipczd.pl, Ciara, Elżbieta² (AUTHOR), Jurkiewicz, Dorota² (AUTHOR), Mekrouda, Magda³ (AUTHOR), Cielecka-Kuszyk, Joanna⁴ (AUTHOR), Jurkiewicz, Elżbieta⁵ (AUTHOR), Płoski, Rafał⁶ (AUTHOR), Pawłowska, Joanna³ (AUTHOR), Jankowska, Irena³ (AUTHOR)

Source: Diagnostics (2075-4418). Jun2023, Vol. 13 Issue 11, p1917. 12p.

Subject Terms: *CILIOPATHY, *CHOLANGITIS, *NUCLEOTIDE sequencing, *MOLECULAR spectra, *GENE expression

Biliary, Renal, Neurological, and Skeletal syndrome in a Chinese boy.

Authors: Yang, Wu¹, Li, Xiao-Yu¹, Ma, Li-Juan¹, Zhang, Hong-Wen^1,2 zhanghongwen@126.com

Source: Pediatric Nephrology. Apr2025, Vol. 40 Issue 4, p947-949. 3p.

Subject Terms: *MUSCULOSKELETAL system, *CILIOPATHY, *BLOOD testing, *GENETIC variation, *NEUROLOGICAL disorders, *ALLELES, *GENETIC testing, *PHENOTYPES, *KIDNEYS

Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes.

Authors: Higgins, Kendall¹ (AUTHOR), Moore, Bret A.² (AUTHOR), Berberovic, Zorana^3,4 (AUTHOR), Adissu, Hibret A.⁵ (AUTHOR), Eskandarian, Mohammad^3,4 (AUTHOR), Flenniken, Ann M.^3,4 (AUTHOR), Shao, Andy⁶ (AUTHOR), Imai, Denise M.⁷ (AUTHOR), Clary, Dave⁸ (AUTHOR), Lanoue, Louise⁸ (AUTHOR), Newbigging, Susan^3,4 (AUTHOR), Nutter, Lauryl M. J.^3,9 (AUTHOR), Adams, David J.¹⁰ (AUTHOR), Bosch, Fatima¹¹ (AUTHOR), Braun, Robert E.¹² (AUTHOR), Brown, Steve D. M.¹³ (AUTHOR), Dickinson, Mary E.¹⁴ (AUTHOR), Dobbie, Michael¹⁵ (AUTHOR), Flicek, Paul¹⁶ (AUTHOR), Gao, Xiang¹⁷ (AUTHOR)

Source: Scientific Reports. 12/1/2022, Vol. 12 Issue 1, p1-17. 17p.

Subject Terms: *KNOCKOUT mice, *CILIOPATHY, *CILIA & ciliary motion, *GENES, *PROTEIN-protein interactions, *CONSORTIA

Biliary cirrhosis associated with WDR19-related ciliopathy in siblings.

Authors: Ravanbakhsh, Naseem^1,2 (AUTHOR) Nravanbakhsh@luriechildrens.org, Genyk, Yuri^2,3 (AUTHOR), Cheng, Alauna⁴ (AUTHOR), Vats, Divya⁵ (AUTHOR), Yanni, George² (AUTHOR)

Source: Journal of Hepatology. Dec2024, Vol. 81 Issue 6, pe264-e266. 3p.

Subject Terms: *BILIARY liver cirrhosis, *CILIOPATHY, *SIBLINGS

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.

Authors: Milibari, Doaa^1,2 (AUTHOR) doaamilibari@gmail.com, Magliyah, Moustafa³ (AUTHOR) mussam08@gmail.com, Semidey, Valmore A.¹ (AUTHOR) asemidey@hotmail.com, Schatz, Patrik^1,4 (AUTHOR) patrik.schatz@med.lu.se, ALBalawi, Hani B.⁵ (AUTHOR) hb.albalawi@ut.edu.sa

Source: Clinics & Practice. Aug2022, Vol. 12 Issue 4, p491-500. 10p.

Subject Terms: *RETINITIS pigmentosa, *CILIOPATHY, *RETINAL degeneration, *RETINAL imaging, *GENETIC testing, *MUCOCILIARY system

Primary Ciliary Dyskinesia.

Authors: Wee, Wallace B.^1,2,3, Kinghorn, BreAnna⁴, Davis, Stephanie D.⁵, Ferkol, Thomas W.⁵, Shapiro, Adam J.⁶ Adam.Shapiro.med@ssss.gouv.qc.ca

Source: Pediatrics. Jun2024, Vol. 153 Issue 6, p1-11. 11p.

Subject Terms: *CILIOPATHY, *CILIARY motility disorders, *RARE diseases, *DISEASE management, *MUCOCILIARY system, *GENETIC variation, *GENETIC disorders, *LUNG diseases, *RESPIRATORY distress syndrome, *PHENOTYPES

Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes.

Authors: Bentley-Ford, Melissa R.¹, LaBonty, Melissa¹, Thomas, Holly R.², Haycraft, Courtney J.¹, Scott, Mikyla¹, LaFayette, Cameron¹, Croyle, Mandy J.¹, Andersen, Reagan S.¹, Parant, John M.², Yoder, Bradley K.¹, byoder@uab.edu

Source: Genetics; Jan2022, Vol. 220 Issue 1, p1-13, 13p

Clinical and genetic aspects of Bardet–Biedl syndrome in adults in Norway.

Authors: Rustad, Cecilie Fremstad, Bragadottir, Ragnheidur, Tveten, Kristian, Nordgarden, Hilde, Miller, Jeanette Ullmann, Åsten, Pamela Marika, Vasconcelos, Gisela, Kulseth, Mari Ann, Holla, Øystein Lunde, Olsen, Hanne Gro, von der Lippe, Charlotte, Sigurdardottir, Solrun

Source: Orphanet Journal of Rare Diseases; 3/14/2025, Vol. 20 Issue 1, p1-12, 12p

Subject Terms: GENETIC variation, OBESITY, RETINAL degeneration, CILIOPATHY, INTERDISCIPLINARY research, KIDNEY diseases, NUCLEOTIDE sequencing

Geographic Terms: NORWAY

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.

Authors: Bakey, Zeineb^1,2, Cabrera, Oscar A.³, Hoefele, Julia⁴, Antony, Dinu^1,2, Wu, Kaman², Stuck, Michael W.³, Micha, Dimitra⁵, Eguether, Thibaut³, Smith, Abigail O.³, van der Wel, Nicole N.⁶, Wagner, Matias⁴, Strittmatter, Lara⁷, Beales, Philip L.⁸, Jonassen, Julie A.⁹, Thiffault, Isabelle¹⁰, Cadieux-Dion, Maxime¹⁰, Boyes, Laura¹¹, Sharif, Saba¹¹, Tüysüz, Beyhan¹², Dunstheimer, Desiree¹³

Source: PLoS Genetics; 6/14/2023, Vol. 19 Issue 6, p1-29, 29p

Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.

Authors: Perge, Kevin^1,2 kevin.perge@chu-lyon.fr, Capel, Emilie³, Villanueva, Carine¹, Gautheron, Jérémie³, Diallo, Safiatou³, Auclair, Martine³, Rondeau, Sophie⁴, Morichon, Romain^3,5, Brioude, Frédéric^3,6, Jéru, Isabelle^3,7, Rossi, Massimiliamo^8,9, Nicolino, Marc^1,2, Vigouroux, Corinne^3,7,10 kevin.perge@chu-lyon.fr

Source: European Journal of Endocrinology. Feb2024, Vol. 190 Issue 2, p151-164. 14p.

Subject Terms: *CILIOPATHY, *FACIAL abnormalities, *ADIPOSE tissues

Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.

Authors: Batkovskyte, Dominyka¹ (AUTHOR) dominyka.batkovskyte@ki.se, Komatsu, Maya² (AUTHOR), Hammarsjö, Anna^1,3 (AUTHOR), Pooh, Ritsuko^4,5 (AUTHOR), Shimokawa, Osamu⁵ (AUTHOR), Ikegawa, Shiro^6,7 (AUTHOR), Grigelioniene, Giedre^1,3 (AUTHOR), Nishimura, Gen^1,6 (AUTHOR), Yamada, Takahiro^6,8,9 (AUTHOR)

Source: Clinical Genetics. Jan2024, Vol. 105 Issue 1, p87-91. 5p.

Subject Terms: *GENETIC variation, *CILIOPATHY, *CONGENITAL disorders, *CLEFT palate, *CLEFT lip, *FETUS

Recurrent Nasal Polyposis and Bifid Epiglottis in a Child with Bardet–Biedl Syndrome Ciliopathy

Authors: Natalia Fourla, Nikolaos Drimalas, Ioannis Michael Vlastos

Source: Sinusitis, Vol 8, Iss 2, Pp 63-67 (2024)

Subject Terms: Bardet–Biedl syndrome, ciliopathy, nasal polyps, bifid epiglottis, Otorhinolaryngology, RF1-547

File Description: electronic resource

Relation: https://www.mdpi.com/2673-351X/8/2/8; https://doaj.org/toc/2673-351X

Access URL: https://doaj.org/article/bcd226ccad0e4b60bc84c0546bc98310