Results 11 to 20 of about 12,876 (273)

WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome [PDF]

, 2017
WDR11 has been implicated in congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS), human developmental genetic disorders defined by delayed puberty and infertility. However, WDR11's role in development is poorly understood.
Caligioni CS, Cheol‐Hee Kim, Daniel PS Osborn, Francesc Miralles, Hyung‐Goo Kim, Hyun‐Taek Kim, Ji‐Young Lee, Johanna Känsäkoski, Juan Pedro Martinez‐Barbera, Kimi Araki, Lawrence C Layman, Masatake Araki, Miyamoto N, Nigel A Brown, Nina Brandstack, Paris Ataliotis, Soo‐Hyun Kim, Taneli Raivio, Theil T, Timothy Mohun, Treier M, Westerfield M, Yeon‐Joo Kim   +22 more
core   +4 more sources

PATJ deficiency leads to cystic kidney disease and related ciliopathies [PDF]

HGG Advances
Summary: Cystic kidney disease and related ciliopathies are caused by pathogenic variants in genes that commonly result in ciliary dysfunction. For a substantial number of individuals affected by those cilia-related diseases, the causative gene remains ...
Daniel Epting, Daniela A. Braun, Eva Decker, Elisabeth Ott, Tobias Eisenberger, Nadine Bachmann, Pavel Nedvetsky, Michael P. Krahn, Friedhelm Hildebrandt, Carsten Bergmann   +9 more
doaj   +2 more sources

Situs Inversus Totalis: A Case Report and Literature Review. [PDF]

Clin Case Rep
ABSTRACT Situs Inversus Totalis (SIT) is a rare congenital anomaly characterized by the complete mirror‐image transposition of the thoracoabdominal viscera. Although typically it has a favorable prognosis, SIT can be associated with ciliopathy‐related disorders, most notably Primary Ciliary Dyskinesia (PCD).
Du X, Wang N, Sheng J, Zhang Y, Gao J.
europepmc   +2 more sources

Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model [PDF]

, 2014
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous inherited human disorder displaying a pleotropic phenotype. Many of the symptoms characterized in the human disease have been reproduced in animal models carrying deletions or knock-in mutations ...
A Amador-Arjona, A Biedl, AJ Ross, AV Loktev, C Peyron, C Rooryck, Candice Askwith, CS Carter, D Paré, DY Nishimura, ER Eichers, ES Seeley, G Keryer, GA Bishop, H Jin, HA Praetorius, IR Veland, J Yang, J Yang, J Yang, J. Patrick Card, JE Ledoux, JL Badano, JL Rosenbaum, JZ Laurence, K Baker, K Baker, K Keppler-Noreuil, K Mykytyn, K Rahmouni, Kamal Rahmouni, Karina E. Steren, Khristofor Agassandian, M Fliegauf, MA Fath, Marianna Agassandian, Milan Patel, MR Leroux, MV Nachury, N Kumamoto, NF Berbari, P Sah, PL Beales, RE Davis, RE Swiderski, RE Watson Jr, RN Cardinal, S Barnett, S Massinen, S Seo, S Zola-Morgan, SM Guadiana, ST Wong, SY Shu, Val C. Sheffield, X Chamling, Z Wang   +56 more
core   +8 more sources

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture [PDF]

Nature Communications
Cilia are essential organelles, and variants in genes governing ciliary function result in ciliopathic diseases. The Ciliogenesis and PLANar polarity Effectors (CPLANE) protein complex is essential for ciliogenesis, and all but one subunit of the CPLANE ...
Neftalí Vazquez, Chanjae Lee, Irene Valenzuela, Thao P. Phan, Camille Derderian, Marcelo Chávez, Nancie A. Mooney, Janos Demeter, Mohammad Ovais Aziz-Zanjani, Ivon Cusco, Marta Codina, Núria Martínez-Gil, Diana Valverde, Carlos Solarat, Ange-Line Bruel, Cristel Thauvin-Robinet, Elisabeth Steichen, Isabel Filges, Pascal Joset, Julie De Geyter, Krishna Vaidyanathan, Tynan P. Gardner, Michinori Toriyama, Edward M. Marcotte, Kevin Drew, Elle C. Roberson, Peter K. Jackson, Jeremy F. Reiter, Eduardo F. Tizzano, John B. Wallingford   +29 more
doaj   +2 more sources

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies. [PDF]

Clin Genet
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Boutaud L, Li C, Moncler C, Verlin L, Garfa-Traoré M, Bourgon N, Akbari D, Porée J, Serpieri V, Panza M, Haddad L, Nitschké P, Aziza J, Matt C, Valente EM, Gargallo P, Dubucs C, Attié-Bitach T, Leroux MR, Thomas S.   +19 more
europepmc   +2 more sources

Multilocus Genetic Variants in a Child With Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3-q32.11 Deletion. [PDF]

Clin Case Rep
ABSTRACT Neuro‐ichthyosis is a rare group of disorders characterized by the coexistence of neurological dysfunction and ichthyotic skin changes. We report a 5‐year‐old girl born to consanguineous parents who presented with pharmacoresistant epilepsy, severe developmental delay, microcephaly, and ichthyosis.
Dababseh BH, Ghnimat AS, AbuHamdiya LW, Atatre MH, Batran A, Suboh MW.   +5 more
europepmc   +2 more sources

CPLANE Complex and Ciliopathies [PDF]

Biomolecules, 2022
Primary cilia are non-motile organelles associated with the cell cycle, which can be found in most vertebrate cell types. Cilia formation occurs through a process called ciliogenesis, which involves several mechanisms including planar cell polarity (PCP) and the Hedgehog (Hh) signaling pathway.
E. Martin-Salazar, Diana Valverde
openalex   +5 more sources

Ocular manifestations of renal ciliopathies [PDF]

Pediatric Nephrology, 2023
AbstractRenal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels. Ocular associations were identified from Medline and OMIM, and the genes additionally examined for expression in the human ...
Omar Salehi, Heather G. Mack, Deb Colville, Debbie Lewis, Judy Savige   +4 more
openalex   +4 more sources

Motile ciliopathies

Nature Reviews Disease Primers, 2020
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of
Wallmeier, Julia, Nielsen, Kim G., Kuehni, Claudia E., Lucas, Jane, Leigh, Margaret W., Zariwala, Maimoona A., Omran, Heymut   +6 more
openaire   +6 more sources