Results 41 to 50 of about 8,699 (199)

Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure

Frontiers in Genetics, 2021
Variants in the GLIS family zinc finger protein 2 (GLIS2) are a rare cause of nephronophthisis-related ciliopathies (NPHP-RC). A reduction in urinary concentration and a progressive chronic tubulointerstitial nephropathy with corticomedullary cysts are ...
Intisar Al Alawi, Intisar Al Alawi, Laura Powell, Sarah J. Rice, Mohammed S. Al Riyami, Marwa Al-Riyami, Issa Al Salmi, Issa Al Salmi, John A. Sayer, John A. Sayer, John A. Sayer   +10 more
doaj   +1 more source

Zebrafish Assays of Ciliopathies [PDF]

, 2011
In light of the growing list of human disorders associated with their dysfunction, primary cilia have recently come to attention as being important regulators of developmental signaling pathways and downstream processes. These organelles, present on nearly every vertebrate cell type, are highly conserved structures allowing for study across a range of ...
Norann A, Zaghloul, Nicholas, Katsanis
openaire   +2 more sources

Using Paramecium as a Model for Ciliopathies [PDF]

Genes, 2021
Paramecium has served as a model organism for the studies of many aspects of genetics and cell biology: non-Mendelian inheritance, genome duplication, genome rearrangements, and exocytosis, to name a few. However, the large number and patterning of cilia that cover its surface have inspired extraordinary ultrastructural work.
Megan Valentine, Judith Van Houten
openaire   +2 more sources

Research progress on the regulation of craniofacial development and malformation by fibroblast growth factor 8

口腔疾病防治, 2022
Fibroblast growth factor 8 (FGF8) is a kind of secretory polypeptide that has crucial roles in the development of various tissues and organs. Current studies have found that FGF8 can regulate the differentiation of cranial neural crest cells by ...
CAO Xiaoling, XIE Jing, ZHOU Xuedong
doaj   +1 more source

Characterizing the morbid genome of ciliopathies [PDF]

, 2016
Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome ...
Derar, N, Halees, A, Nada Al Tassan, Dorota Monies, Logan, CV, Nisha Patel, Szymanska, K, Al-Owain, M, Monies, D, Seidahmed, MZ, Hadeel Alsharif, Mohamed El-Kalioby, Tabarki, B, Abouelhoda, M, Alkuraya, H, Maha Alnemer, Morsy, H, Clare V. Logan, Meriki, N, Al-Husain, M, Johnson, CA, Alsharif, H, Nour Ewida, Sonbul, R, Mustafa A. Salih, Fowzan S. Alkuraya, Mohammed A. Aldahmesh, Mohammed Al-Owain, null null, David A. Parry, Rawda Sonbul, Aldahmesh, MA, Shaheen, R, Anas M. Alazami, Amal Al Hashem, AlShahwan, S, Faquih, T, Basu, B, Katarzyna Szymanska, Mohammed Zain Seidahmed, Marius Ueffing, Al Tala, S, Ranad Shaheen, Eissa Faqeih, Tariq Faquih, Hisham Alkuraya, Brahim Tabarki, Al Tassan, N, Ewida, N, El-Kalioby, M, Mohamed Abouelhoda, Anason Halees, Al Hashem, A, Alkuraya, FS, Nada Derar, Andre Megarbane, Alnemer, M, Mais Hashem, Abdulwahab, FM, Ueffing, M, Saeed Al Tala, Karsten Boldt, Colin A. Johnson, Boldt, K, Saad AlShahwan, Ibrahim, N, Niema Ibrahim, Heba Morsy, Hashem, M, Salih, MA, Parry, DA, Megarbane, A, Faqeih, E, Alazami, AM, Basudha Basu, Neama Meriki, Patel, N, Firdous M. Abdulwahab, Muneera Al-Husain   +78 more
core   +1 more source

Review on Genes related to Postaxial Polydactyly

Frontiers in Pediatrics, 2015
Background: Postaxial polydactyly (PAP) is one of the commonest congenital malformations and usually is associated to several syndromes . There is no primary investigational strategy for PAP cases with single gene disorder in literature.
Ashraf AbdulRahman El-Harouni, Prashant Kumar Verma   +1 more
doaj   +1 more source

Pharmacological intervention of the FGF–PTH axis as a potential therapeutic for craniofacial ciliopathies

Disease Models & Mechanisms, 2022
Ciliopathies represent a disease class characterized by a broad range of phenotypes including polycystic kidneys and skeletal anomalies. Ciliopathic skeletal phenotypes are among the most common and most difficult to treat due to a poor understanding of ...
Christian Louis Bonatto Paese, Ching-Fang Chang, Daniela Kristeková, Samantha A. Brugmann   +3 more
doaj   +1 more source

Cell-cell interaction determines cell fate of mesoderm-derived cell in tongue development through Hh signaling

eLife
Dysfunction of primary cilia leads to genetic disorder, ciliopathies, which shows various malformations in many vital organs such as brain. Multiple tongue deformities including cleft, hamartoma, and ankyloglossia are also seen in ciliopathies, which ...
Maiko Kawasaki, Katsushige Kawasaki, Finsa Tisna Sari, Takehisa Kudo, Jun Nihara, Madoka Kitamura, Takahiro Nagai, Vanessa Utama, Yoko Ishida, Fumiya Meguro, Alex Kesuma, Akira Fujita, Takayuki Nishimura, Yuan Kogure, Satoshi Maruyama, Jun-ichi Tanuma, Yoshito Kakihara, Takeyasu Maeda, Sarah Ghafoor, Roman H Khonsari, Pierre Corre, Paul T Sharpe, Martyn Cobourne, Brunella Franco, Atsushi Ohazama   +24 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies

Diagnostics
Ciliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and
Katia Margiotti, Marco Fabiani, Antonella Cima, Antonella Viola, Francesca Monaco, Chiara Alì, Costanza Zangheri, Carmela Abramo, Claudio Coco, Alvaro Mesoraca, Claudio Giorlandino   +10 more
doaj   +1 more source