Works matching DE "CILIOPATHY"

Results: 196

Genetics Review: Joubert Syndrome.

Published in:

Neonatal Network, 2025, v. 44, n. 3, p. 159, doi. 10.1891/NN-2024-0052

By:

Tran, Audrey M.;
Jnah, Amy J.;
De Castro Pretelt, Mauricio J.

Publication type:

Article

The axoneme: the propulsive engine of spermatozoa and cilia and associated ciliopathies leading to infertility.

Published in:

Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 2, p. 141, doi. 10.1007/s10815-016-0652-1

By:

Linck, Richard;
Chemes, Hector;
Albertini, David

Publication type:

Article

Calcium-axonemal microtubuli interactions underlie mechanism(s) of primary cilia morphological changes.

Published in:

Journal of Biological Physics, 2018, v. 44, n. 1, p. 53, doi. 10.1007/s10867-017-9475-2

By:

Buljan, Vlado A.;
Graeber, Manuel B.;
Holsinger, R. M. Damian;
Brown, Daniel;
Hambly, Brett D.;
Delikatny, Edward J.;
Vuletic, Vladimira R.;
Krebs, Xavier N.;
Tomas, Ilijan B.;
Bohorquez-Florez, John J.;
Guo Jun Liu;
Banati, Richard B.

Publication type:

Article

Corrigendum.

Published in:: 2017
Publication type:: Correction Notice

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 7, p. 877, doi. 10.1007/s00431-011-1552-0

By:

Calinescu-Tuleasca, Ana-Maria;
Bottani, Armand;
Rougemont, Anne-Laure;
Birraux, Jacques;
Gubler, Marie-Claire;
Coultre, Claude;
Majno, Pietro;
Mentha, Gilles;
Girardin, Eric;
Belli, Dominique;
Wildhaber, Barbara

Publication type:

Article

Primary Cilium-Mediated Crosstalk of Signaling Cascades in Ciliogenesis: Implications for Tumorigenesis and Senescence.

Published in:

Cell Communication Insights, 2016, n. 8, p. 13, doi. 10.4137/CCI.S13922

By:

Futoshi Suizu;
Noriyuki Hirata;
Satoko Ishigaki;
Tatsuma Edamura;
Kohki Kimura;
Tsutomu Tanaka;
Masayuki Noguchi

Publication type:

Article

Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.

Published in:

Genes, 2023, v. 14, n. 11, p. 1985, doi. 10.3390/genes14111985

By:

Misceo, Doriana;
Senaratne, Lokuliyanage Dona Samudita;
Mero, Inger-Lise;
Sundaram, Arvind Y. M.;
Bjørnstad, Pål Marius;
Szczałuba, Krzysztof;
Gasperowicz, Piotr;
Kamien, Benjamin;
Nedregaard, Bård;
Holmgren, Asbjørn;
Strømme, Petter;
Frengen, Eirik

Publication type:

Article

Expanding the Phenotype of the FAM149B1 -Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.

Published in:

Genes, 2021, v. 12, n. 11, p. 1648, doi. 10.3390/genes12111648

By:

Siegert, Sandy;
Mindler, Gabriel T.;
Brücke, Christof;
Kranzl, Andreas;
Patsch, Janina;
Ritter, Markus;
Janecke, Andreas R.;
Vodopiutz, Julia

Publication type:

Article

A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.

Published in:

Genes, 2021, v. 13, n. 6, p. 945, doi. 10.3390/genes12060945

By:

Tuncel, Gulten;
Kaymakamzade, Bahar;
Engindereli, Yeliz;
Temel, Sehime G.;
Ergoren, Mahmut Cerkez

Publication type:

Article

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.

Published in:

Genes, 2017, v. 8, n. 7, p. 178, doi. 10.3390/genes8070178

By:

McGuigan, David B.;
Heon, Elise;
Cideciyan, Artur V.;
Ratnapriya, Rinki;
Lu, Monica;
Sumaroka, Alexander;
Roman, Alejandro J.;
Batmanabane, Vaishnavi;
Garafalo, Alexandra V.;
Stone, Edwin M.;
Swaroop, Anand;
Jacobson, Samuel G.

Publication type:

Article

Alström syndrome: current perspectives.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 171, doi. 10.2147/TACG.S56612

By:

Álvarez-Satta, María;
Castro-Sánchez, Sheila;
Valverde, Diana

Publication type:

Article

Activation of the G<sub>i</sub> protein-RHOA axis by non-canonical Hedgehog signaling is independent of primary cilia.

Published in:

PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0203170

By:

Ho Wei, Lan;
Arastoo, Mohammad;
Georgiou, Ioanna;
Manning, David R.;
Riobo-Del Galdo, Natalia A.

Publication type:

Article

Genotypic and phenotypic characterization of the Sdccag8<sup>Tn(sb-Tyr)2161B.CA1C2Ove</sup> mouse model.

Published in:

PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0192755

By:

Weihbrecht, Katie;
Goar, Wesley A.;
Carter, Calvin S.;
Sheffield, Val C.;
Seo, Seongjin

Publication type:

Article

Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects.

Published in:

BMC Medical Genomics, 2018, v. 11, p. 1, doi. 10.1186/s12920-018-0323-4

By:

Seo, Heewon;
Kwon, Eun Jin;
You, Young-Ah;
Park, Yoomi;
Min, Byung Joo;
Yoo, Kyunghun;
Hwang, Han-Sung;
Kim, Ju Han;
Kim, Young Ju

Publication type:

Article

Ciliary Extracellular Vesicles: Txt Msg Organelles.

Published in:

Cellular & Molecular Neurobiology, 2016, v. 36, n. 3, p. 449, doi. 10.1007/s10571-016-0345-4

By:

Wang, Juan;
Barr, Maureen

Publication type:

Article

CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2019, v. 61, n. 4, p. 440, doi. 10.1165/rcmb.2018-0260OC

By:

Zietkiewicz, Ewa;
Bukowy-Bieryllo, Zuzanna;
Rabiasz, Alicja;
Daca-Roszak, Patrycja;
Wojda, Alina;
Voelkel, Katarzyna;
Rutkiewicz, Ewa;
Pogorzelski, Andrzej;
Rasteiro, Margarida;
Witt, Michal

Publication type:

Article

Skeletal ciliopathy: pathogenesis and related signaling pathways.

Published in:

Molecular & Cellular Biochemistry, 2024, v. 479, n. 4, p. 811, doi. 10.1007/s11010-023-04765-5

By:

Lai, Bowen;
Jiang, Heng;
Gao, Yuan;
Zhou, Xuhui

Publication type:

Article

The ciliopathy gene product Cep290 is required for primary cilium formation and microtubule network organization.

Published in:

Turkish Journal of Biology, 2018, v. 42, n. 5, p. 371, doi. 10.3906/biy-1805-25

By:

FIRAT-KARALAR, Elif Nur

Publication type:

Article

C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases.

Published in:

2023

By:

Shinbashi, Meagan;
Jewell, Ann;
Randolph, Jessica;
Couser, Natario

Publication type:

Case Study

Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report.

Published in:

Clinical Case Reports, 2022, v. 10, n. 2, p. 1, doi. 10.1002/ccr3.5453

By:

Day, Morgan L.;
Avila, Crystal C.;
Novak, Dawn L.

Publication type:

Article

Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.

Published in:

Clinical Case Reports, 2017, v. 5, n. 4, p. 449, doi. 10.1002/ccr3.859

By:

Garcia‐Tizon Larroca, Santiago;
Blagoeva Atanasova, Vangeliya;
Orera Clemente, Maria;
Aluja Mendez, Anna;
Ortega Abad, Virginia;
Perez Fernandez‐Pacheco, Ricardo;
De León Luis, Juan;
Gamez Alderete, Francisco

Publication type:

Article

Sequential Liver–Kidney Transplant for Cranioectodermal Dysplasia.

Published in:

Pediatric Transplantation, 2025, v. 29, n. 3, p. 1, doi. 10.1111/petr.70066

By:

Berger, Rebecca;
Kim, Min;
Tal, Leyat;
Nguyen Galvan, Nhu Thao;
Garner, Donna;
Srivaths, Poyyapakkam

Publication type:

Article

Orthotopic liver transplantation for Sensenbrenner syndrome.

Published in:

2018

By:

Ackah, Ruth Linda;
Yoeli, Dor;
Kueht, Michael;
Galván, Nhu Thao Nguyen;
Cotton, Ronald Timothy;
Rana, Abbas;
O'Mahony, Christine Ann;
Goss, John Alan

Publication type:

Case Study

Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-03950-0

By:

Qiu, Hantian;
Tsurumi, Yuta;
Katoh, Yohei;
Nakayama, Kazuhisa

Publication type:

Article

The Roles of Primary Cilia in Cardiovascular Diseases.

Published in:

Cells (2073-4409), 2018, v. 7, n. 12, p. 233, doi. 10.3390/cells7120233

By:

Pala, Rajasekharreddy;
Jamal, Maha;
Alshammari, Qamar;
Nauli, Surya M.

Publication type:

Article

Mutations in TTC21B cause different phenotypes in two childhood cases in China.

Published in:

Nephrology, 2018, v. 23, n. 4, p. 371, doi. 10.1111/nep.13008

By:

HONGWEN ZHANG;
BAIGE SU;
XIAOYU LIU;
HUIJIE XIAO;
JIE DING;
YONG YAO

Publication type:

Article

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.

Published in:

Nephrology, 2017, v. 22, n. 10, p. 818, doi. 10.1111/nep.13097

By:

Abdullah, Uzma;
Farooq, Muhammad;
Fatima, Ambrin;
Tauseef, Wasima;
Sarwar, Yasra;
Nuri, Mmh;
Tommerup, Niels;
Baig, Shahid M.

Publication type:

Article

Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.

Published in:

Nephrology, 2017, v. 22, n. 7, p. 566, doi. 10.1111/nep.12996

By:

Yoshikawa, Takahisa;
Kamei, Koichi;
Nagata, Hiroko;
Saida, Ken;
Sato, Mai;
Ogura, Masao;
Ito, Shuichi;
Miyazaki, Osamu;
Urushihara, Maki;
Kondo, Shuji;
Sugawara, Noriko;
Ishizuka, Kiyonobu;
Hamasaki, Yuko;
Shishido, Seiichiro;
Morisada, Naoya;
Iijima, Kazumoto;
Nagata, Michio;
Yoshioka, Takako;
Ogata, Kentaro;
Ishikura, Kenji

Publication type:

Article

Saccular Cyst and Airway Compromise in a New Born With Ciliopathy.

Published in:

2020

By:

Gruber, Maayan;
Gregersen, Nerine;
Hegarty, Jo;
Mahadevan, Murali;
Salkeld, Lesley

Publication type:

Case Study

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.

Published in:

Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00134

By:

Ott, Tim;
Kaufmann, Lilian;
Granzow, Martin;
Hinderhofer, Katrin;
Bartram, Claus R.;
Theiß, Susanne;
Seitz, Angelika;
Paramasivam, Nagarajan;
Schulz, Angela;
Moog, Ute;
Blum, Martin;
Evers, Christina M.

Publication type:

Article

Novel biomarkers of ciliary extracellular vesicles interact with ciliopathy and Alzheimer's associated proteins.

Published in:

Communicative & Integrative Biology, 2021, v. 14, n. 1, p. 264, doi. 10.1080/19420889.2021.2017099

By:

Mohieldin, Ashraf M.;
Alachkar, Amal;
Yates, John;
Nauli, Surya M.

Publication type:

Article

SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7.

Published in:

PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0130275

By:

Ramachandran, Haribaskar;
Herfurth, Konstantin;
Grosschedl, Rudolf;
Schäfer, Tobias;
Walz, Gerd

Publication type:

Article

Characterization of Tetratricopeptide Repeat-Containing Proteins Critical for Cilia Formation and Function.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0124378

By:

Xu, Yanan;
Cao, Jingli;
Huang, Shan;
Feng, Di;
Zhang, Wei;
Zhu, Xueliang;
Yan, Xiumin

Publication type:

Article

Ciliopathy Is Differentially Distributed in the Brain of a Bardet-Biedl Syndrome Mouse Model.

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093484

By:

Agassandian, Khristofor;
Patel, Milan;
Agassandian, Marianna;
Steren, Karina E.;
Rahmouni, Kamal;
Sheffield, Val C.;
Card, J. Patrick

Publication type:

Article

Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00943-w

By:

Suárez-González, Julia;
Seidel, Verónica;
Andrés-Zayas, Cristina;
Izquierdo, Elvira;
Buño, Ismael

Publication type:

Article

Late-onset hydrocephalus in a child with Joubert syndrome: a case report.

Published in:

2018

By:

Fehrenbach, M. K.;
Nestler, U.;
Meixensberger, J.;
Krause, M.;
Bernhard, M. K.;
Merkenschlager, A.;
Weise, S.

Publication type:

Case Study

Sperm dysfunction and ciliopathy.

Published in:

Reproductive Medicine & Biology, 2016, v. 15, n. 2, p. 77, doi. 10.1007/s12522-015-0225-5

By:

Inaba, Kazuo;
Mizuno, Katsutoshi

Publication type:

Article

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33547-8

By:

Mascibroda, Lauren G.;
Shboul, Mohammad;
Elrod, Nathan D.;
Colleaux, Laurence;
Hamamy, Hanan;
Huang, Kai-Lieh;
Peart, Natoya;
Singh, Moirangthem Kiran;
Lee, Hane;
Merriman, Barry;
Jodoin, Jeanne N.;
Sitaram, Poojitha;
Lee, Laura A.;
Fathalla, Raja;
Al-Rawashdeh, Baeth;
Ababneh, Osama;
El-Khateeb, Mohammad;
Escande-Beillard, Nathalie;
Nelson, Stanley F.;
Wu, Yixuan

Publication type:

Article

Pectus excavatum: First ultrastructural findings of a potential ciliopathy.

Published in:

2017

By:

Brochhausen, Christoph;
Mamilos, Andreas;
Turial, Salmai;
Kirkpatrick, C. James

Publication type:

Abstract

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

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 311, doi. 10.1111/cge.14663

By:

Radhakrishnan, Periyasamy;
Quadri, Neha;
Erger, Florian;
Fuhrmann, Nico;
Geist, Otilia‐Maria;
Netzer, Christian;
Khyriem, Ibakordor;
Muranjan, Mamta;
Udani, Vrajesh;
Yeole, Mayuri;
Mascarenhas, Selinda;
Limaye, Sanket;
Siddiqui, Shahyan;
Upadhyai, Priyanka;
Shukla, Anju

Publication type:

Article

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

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 87, doi. 10.1111/cge.14419

By:

Batkovskyte, Dominyka;
Komatsu, Maya;
Hammarsjö, Anna;
Pooh, Ritsuko;
Shimokawa, Osamu;
Ikegawa, Shiro;
Grigelioniene, Giedre;
Nishimura, Gen;
Yamada, Takahiro

Publication type:

Article

WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 298, doi. 10.1111/cge.13872

By:

Solaguren‐Beascoa, Maria;
Bujakowska, Kinga M.;
Méjécase, Cécile;
Emmenegger, Lisa;
Orhan, Elise;
Neuillé, Marion;
Mohand‐Saïd, Saddek;
Condroyer, Christel;
Lancelot, Marie‐Elise;
Michiels, Christelle;
Demontant, Vanessa;
Antonio, Aline;
Letexier, Mélanie;
Saraiva, Jean‐Paul;
Lonjou, Christine;
Carpentier, Wassila;
Léveillard, Thierry;
Pierce, Eric A.;
Dollfus, Hélène;
Sahel, José‐Alain

Publication type:

Article

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 303, doi. 10.1111/cge.13805

By:

David, Odeya;
Eskin‐Schwartz, Marina;
Ling, Galina;
Dolgin, Vadim;
Kristal, Eyal;
Benkowitz, Ela;
Osyntsov, Lidia;
Gradstein, Libe;
Birk, Ohad S.;
Loewenthal, Neta;
Yerushalmi, Baruch

Publication type:

Article

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 384, doi. 10.1111/cge.13500

By:

Antin, Manuela;
Leuvrey, Anne;
Nourisson, Elsa;
Mary, Laura;
Muller, Jean;
Bouvier, Raymonde;
Buenerd, Annie;
Clémenson, Alix;
Devisme, Louise;
Gasser, Bernard;
Gilbert‐Dussardier, Brigitte;
Guimiot, Fabien;
Khau Van Kien, Philippe;
Leroy, Brigitte;
Loget, Philippe;
Stoetzel, Corinne;
Schaefer, Elise;
Dollfus, Hélène;
Chennen, Kirsley;
Martinovic, Jelena

Publication type:

Article

IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.

Published in:

Clinical Genetics, 2018, v. 94, n. 3/4, p. 368, doi. 10.1111/cge.13408

By:

Moran, J.;
G. Sanderson, K.;
Maynes, J.;
Vig, A.;
Batmanabane, V.;
Kannu, P.;
Tavares, E.;
Vincent, A.;
Héon, E.

Publication type:

Article

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 510, doi. 10.1111/cge.13012

By:

Bondeson, M.‐L.;
Ericson, K.;
Gudmundsson, S.;
Ameur, A.;
Pontén, F.;
Wesström, J.;
Frykholm, C.;
Wilbe, M.

Publication type:

Article

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

Published in:

Clinical Genetics, 2017, v. 92, n. 2, p. 158, doi. 10.1111/cge.12947

By:

Badiner, N.;
Taylor, S.P.;
Forlenza, K.;
Lachman, R. S.;
Bamshad, M.;
Nickerson, D.;
Cohn, D. H.;
Krakow, D.

Publication type:

Article

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 640, doi. 10.1111/cge.12924

By:

Peña ‐ Padilla, C.;
Marshall, C.R.;
Walker, S.;
Scherer, S.W.;
Tavares ‐ Macías, G.;
Razo ‐ Jiménez, G.;
Bobadilla ‐ Morales, L.;
Acosta ‐ Fernández, E.;
Corona ‐ Rivera, A.;
Mendoza ‐ Londono, R.;
Corona ‐ Rivera, J. R.

Publication type:

Article

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

Published in:

Clinical Genetics, 2016, v. 90, n. 6, p. 536, doi. 10.1111/cge.12762

By:

Girisha, K. M.;
Shukla, A.;
Trujillano, D.;
Bhavani, G. S.;
Hebbar, M.;
Kadavigere, R.;
Rolfs, A.

Publication type:

Article

Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?

Published in:

Clinical Genetics, 2016, v. 90, n. 6, p. 540, doi. 10.1111/cge.12764

By:

Jaron, R.;
Rosenfeld, N.;
Zahdeh, F.;
Carmi, S.;
Beni‐Adani, L.;
Doviner, V.;
Picard, E.;
Segel, R.;
Zeligson, S.;
Carmel, L.;
Renbaum, P.;
Levy‐Lahad, E.

Publication type:

Article