Works matching DE "CILIOPATHY"

Results: 198

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition.

Published in:

Scientific Reports, 2015, p. 11137, doi. 10.1038/srep11137

By:

Rao, Kollu N.;
Li, Linjing;
Anand, Manisha;
Khanna, Hemant

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

IK is essentially involved in ciliogenesis as an upstream regulator of oral-facial-digital syndrome ciliopathy gene, ofd1.

Published in:

Cell & Bioscience, 2023, v. 13, n. 1, p. 1, doi. 10.1186/s13578-023-01146-9

By:

Ka, Hye In;
Cho, Mina;
Kwon, Seung-Hae;
Mun, Se Hwan;
Han, Sora;
Kim, Min Jung;
Yang, Young

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

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

<italic>DYNC2H1</italic> mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.

Published in:

Clinical Respiratory Journal, 2018, v. 12, n. 3, p. 1017, doi. 10.1111/crj.12620

By:

Emiralioglu, Nagehan;
Ozcelik, Ugur;
Wallmeier, Julia;
Olbrich, Heike;
Omran, Heymut

Publication type:

Article

Essential Role of IFT140 in Promoting Dentinogenesis.

Published in:

2018

By:

Li, G.;
Liu, M.;
Zhang, S.;
Wan, H.;
Zhang, Q.;
Yue, R.;
Yan, X.;
Wang, X.;
Wang, Z.;
Sun, Y.

Publication type:

journal article

Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development.

Published in:

2018

By:

Cela, P.;
Hampl, M.;
Shylo, N. A.;
Christopher, K. J.;
Kavkova, M.;
Landova, M.;
Zikmund, T.;
Weatherbee, S. D.;
Kaiser, J.;
Buchtova, M.

Publication type:

journal article

Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease.

Published in:

2017

By:

Panny, A.;
Glurich, I.;
Haws, R. M.;
Acharya, A.

Publication type:

journal article

Primary Cilia and Intraflagellar Transport Proteins in Bone and Cartilage.

Published in:

Journal of Dental Research, 2016, v. 95, n. 12, p. 1341, doi. 10.1177/0022034516652383

By:

Yuan, X.;
Yang, S.

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

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

Published in:

Nephrology Dialysis Transplantation, 2017, v. 32, n. 1, p. 151, doi. 10.1093/ndt/gfv453

By:

Bullich, Gemma;
Vargas, Iván;
Trujillano, Daniel;
Mendizábal, Santiago;
Alberto Piñero-Fernández, Juan;
Fraga, Gloria;
García-Solano, José;
Ballarín, José;
Estivill, Xavier;
Torra, Roser;
Ars, Elisabet

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

Reserpine maintains photoreceptor survival in retinal ciliopathy by resolving proteostasis imbalance and ciliogenesis defects.

Published in:

eLife, 2023, p. 1, doi. 10.7554/eLife.83205

By:

Chen, Holly Y.;
Swaroop, Manju;
Papal, Samantha;
Mondal, Anupam K.;
Hyun Beom Song;
Campello, Laura;
Tawa, Gregory J.;
Regent, Florian;
Hiroko Shimada;
Kunio Nagashima;
de Val, Natalia;
Jacobson, Samuel G.;
Wei Zheng;
Swaroop, Anand

Publication type:

Article

New Roles of the Primary Cilium in Autophagy.

Published in:

BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/4367019

By:

Ávalos, Yenniffer;
Peña-Oyarzun, Daniel;
Budini, Mauricio;
Morselli, Eugenia;
Criollo, Alfredo

Publication type:

Article

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Published in:

Scientific Reports, 2015, p. 8666, doi. 10.1038/ncomms9666

By:

Bizet, Albane A.;
Becker-Heck, Anita;
Ryan, Rebecca;
Weber, Kristina;
Filhol, Emilie;
Krug, Pauline;
Halbritter, Jan;
Delous, Marion;
Lasbennes, Marie-Christine;
Linghu, Bolan;
Oakeley, Edward J.;
Zarhrate, Mohammed;
Nitschké, Patrick;
Garfa-Traore, Meriem;
Serluca, Fabrizio;
Yang, Fan;
Bouwmeester, Tewis;
Pinson, Lucile;
Cassuto, Elisabeth;
Dubot, Philippe

Publication type:

Article

Superresolution Pattern Recognition Reveals the Architectural Map of the Ciliary Transition Zone.

Published in:

Scientific Reports, 2015, p. 14096, doi. 10.1038/srep14096

By:

Tony Yang, T.;
Su, Jimmy;
Wang, Won-Jing;
Craige, Branch;
Witman, George B.;
Bryan Tsou, Meng-Fu;
Liao, Jung-Chi

Publication type:

Article

Molecular basis promoting centriole triplet microtubule assembly.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46454-x

By:

Takeda, Yutaka;
Chinen, Takumi;
Honda, Shunnosuke;
Takatori, Sho;
Okuda, Shotaro;
Yamamoto, Shohei;
Fukuyama, Masamitsu;
Takeuchi, Koh;
Tomita, Taisuke;
Hata, Shoji;
Kitagawa, Daiju

Publication type:

Article

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-44611-2

By:

Accogli, Andrea;
Shakya, Saurabh;
Yang, Taewoo;
Insinna, Christine;
Kim, Soo Yeon;
Bell, David;
Butov, Kirill R.;
Severino, Mariasavina;
Niceta, Marcello;
Scala, Marcello;
Lee, Hyun Sik;
Yoo, Taekyeong;
Stauffer, Jimmy;
Zhao, Huijie;
Fiorillo, Chiara;
Pedemonte, Marina;
Diana, Maria C.;
Baldassari, Simona;
Zakharova, Viktoria;
Shcherbina, Anna

Publication type:

Article

Safety and tolerability of autologous bone marrow mesenchymal stromal cells in ADPKD patients.

Published in:

Stem Cell Research & Therapy, 2017, v. 8, p. 1, doi. 10.1186/s13287-017-0557-7

By:

Makhlough, Atieh;
Shekarchian, Soroosh;
Moghadasali, Reza;
Einollahi, Behzad;
Hosseini, Seyedeh Esmat;
Jaroughi, Neda;
Bolurieh, Tina;
Baharvand, Hossein;
Aghdami, Nasser

Publication type:

Article

Alström syndrome: current perspectives.

Published in:

Cancer Management & Research, 2015, v. 7, p. 171, doi. 10.2147/TACG.S56612

By:

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

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

FDA-approved drug shows promise in lab models for blinding childhood disease.

Published in:

Neonatology Today, 2023, v. 18, n. 4, p. 163

By:

Saleem, Saba

Publication type:

Article

Genetics Corner: A Lethal Ciliopathy Affects Two Siblings with Renal Dysplasia and Oligohydramnios.

Published in:

Neonatology Today, 2020, v. 15, n. 3, p. 66

By:

Clark, Robin;
Ramanathan, Subhadra (Subha);
Hernandez, Daisy

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

Syndromic ciliopathy: a taiwanese single-center study.

Published in:

BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01880-0

By:

Pan, Yu-Wen;
Ou, Tsung-Ying;
Chou, Yen-Yin;
Kuo, Pao-Lin;
Hsiao, Hui-Pin;
Chiu, Pao-Chin;
Lin, Ju-Li;
Lo, Fu-Sung;
Wang, Chung-Hsing;
Chen, Peng-Chieh;
Tsai, Meng-Che

Publication type:

Article

Ulk4 Is Essential for Ciliogenesis and CSF Flow.

Published in:

Journal of Neuroscience, 2016, v. 36, n. 29, p. 7589, doi. 10.1523/JNEUROSCI.0621-16.2016

By:

Min Liu;
Zhenlong Guan;
Qin Shen;
Lalor, Pierce;
Fitzgerald, Una;
O'Brien, Timothy;
Dockery, Peter;
Sanbing Shen

Publication type:

Article

Craniofacial Ciliopathies and the Interpretation of Hedgehog Signal Transduction.

Published in:

PLoS Genetics, 2016, v. 12, n. 12, p. 1, doi. 10.1371/journal.pgen.1006460

By:

Liu, Karen J.

Publication type:

Article

Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport.

Published in:

PLoS Genetics, 2016, v. 12, n. 12, p. 1, doi. 10.1371/journal.pgen.1006469

By:

Jensen, Victor L.;
Carter, Stephen;
Sanders, Anna A. W. M.;
Li, Chunmei;
Kennedy, Julie;
Timbers, Tiffany A.;
Cai, Jerry;
Scheidel, Noemie;
Kennedy, Breandán N.;
Morin, Ryan D.;
Leroux, Michel R.;
Blacque, Oliver E.

Publication type:

Article

Craniofacial Ciliopathies Reveal Specific Requirements for GLI Proteins during Development of the Facial Midline.

Published in:

PLoS Genetics, 2016, v. 12, n. 10, p. 1, doi. 10.1371/journal.pgen.1006351

By:

Chang, Ching-Fang;
Chang, Ya-Ting;
Millington, Grethel;
Brugmann, Samantha A.

Publication type:

Article

Accelerating Gene Discovery by Phenotyping Whole-Genome Sequenced Multi-mutation Strains and Using the Sequence Kernel Association Test (SKAT).

Published in:

PLoS Genetics, 2016, v. 12, n. 8, p. 1, doi. 10.1371/journal.pgen.1006235

By:

Timbers, Tiffany A.;
Garland, Stephanie J.;
Mohan, Swetha;
Flibotte, Stephane;
Edgley, Mark;
Muncaster, Quintin;
Au, Vinci;
Li-Leger, Erica;
Rosell, Federico I.;
Cai, Jerry;
Rademakers, Suzanne;
Jansen, Gert;
Moerman, Donald G.;
Leroux, Michel R.

Publication type:

Article

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.

Published in:

PLoS Genetics, 2016, v. 12, n. 7, p. 1, doi. 10.1371/journal.pgen.1006220

By:

Lewis, Wesley R.;
Malarkey, Erik B.;
Tritschler, Douglas;
Bower, Raqual;
Pasek, Raymond C.;
Porath, Jonathan D.;
Birket, Susan E.;
Saunier, Sophie;
Antignac, Corinne;
Knowles, Michael R.;
Leigh, Margaret W.;
Zariwala, Maimoona A.;
Challa, Anil K.;
Kesterson, Robert A.;
Rowe, Steven M.;
Drummond, Iain A.;
Parant, John M.;
Hildebrandt, Friedhelm;
Porter, Mary E.;
Yoder, Bradley K.

Publication type:

Article

A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4.

Published in:

PLoS Genetics, 2016, v. 12, n. 2, p. 1, doi. 10.1371/journal.pgen.1005841

By:

Masyukova, Svetlana V.;
Landis, Dawn E.;
Henke, Scott J.;
Williams, Corey L.;
Pieczynski, Jay N.;
Roszczynialski, Kelly N.;
Covington, Jannese E.;
Malarkey, Erik B.;
Yoder, Bradley K.

Publication type:

Article

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.

Published in:

Journal of Molecular Medicine, 2021, v. 99, n. 11, p. 1623, doi. 10.1007/s00109-021-02112-z

By:

Zhao, Yan;
Wang, Lee-kai;
Eskin, Ascia;
Kang, Xuedong;
Fajardo, Viviana M.;
Mehta, Zubin;
Pineles, Stacy;
Schmidt, Ryan J.;
Nagiel, Aaron;
Satou, Gary;
Garg, Meena;
Federman, Myke;
Reardon, Leigh C.;
Lee, Steven L.;
Biniwale, Reshma;
Grody, Wayne W.;
Halnon, Nancy;
Khanlou, Negar;
Quintero-Rivera, Fabiola;
Alejos, Juan C.

Publication type:

Article

ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.

Published in:

Journal of Molecular Medicine, 2019, v. 97, n. 1, p. 1, doi. 10.1007/s00109-018-1714-x

By:

Hearn, Tom

Publication type:

Article

Study of Proliferative Activity of Vaginal Epithelium in Women with Stress Urinary Incontinence Treated by Er:YAG Laser.

Published in:

Bulletin of Experimental Biology & Medicine, 2017, v. 163, n. 2, p. 280, doi. 10.1007/s10517-017-3784-0

By:

Lapii, G.;
Yakovleva, A.;
Neimark, A.;
Lushnikova, E.

Publication type:

Article

Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations.

Published in:

Zoological Research, 2022, v. 43, n. 3, p. 442, doi. 10.24272/j.issn.2095-8137.2021.387

By:

Zhi-Lin Ren;
Hou-Bin Zhang;
Lin Li;
Zheng-Lin Yang;
Li Jiang

Publication type:

Article

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

A Combined in silico , in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00248

By:

Wheway, Gabrielle;
Nazlamova, Liliya;
Meshad, Nervine;
Hunt, Samantha;
Jackson, Nicola;
Churchill, Amanda

Publication type:

Article

Identification of Important Effector Proteins in the FOXJ1 Transcriptional Network Associated With Ciliogenesis and Ciliary Function.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00023

By:

Mukherjee, Ishita;
Roy, Sudipto;
Chakrabarti, Saikat

Publication type:

Article

Survey of the Ciliary Motility Machinery of Drosophila Sperm and Ciliated Mechanosensory Neurons Reveals Unexpected Cell-Type Specific Variations: A Model for Motile Ciliopathies.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00024

By:

zur Lage, Petra;
Newton, Fay G.;
Jarman, Andrew P.

Publication type:

Article

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.

Published in:

2019

By:

Schaefer, Elise;
Delvallée, Clarisse;
Mary, Laura;
Stoetzel, Corinne;
Geoffroy, Véronique;
Marks-Delesalle, Caroline;
Holder-Espinasse, Muriel;
Ghoumid, Jamal;
Dollfus, Hélène;
Muller, Jean

Publication type:

Case Study

Bardet Biedel Syndrome: a Rare Cause of Chronic Kidney Disease.

Published in:

BANTAO Journal, 2017, v. 14, n. 1, p. 41, doi. 10.1515/bj-2016-0009

By:

Yildirim, Tuba Demirci;
Ugur, Mehmet Can;
Soyaltin, Utku Erdem;
Akar, Harun

Publication type:

Article

Understanding disease pleiotropy: From puzzle to solution.

Published in:

Science Translational Medicine, 2015, v. 7, n. 291, p. 1, doi. 10.1126/scitranslmed.aac6504

By:

Rozet, Jean-Michel;
Gérard, Xavier

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