Results 41 to 50 of about 9,758 (194)

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

Nephronophthisis-Associated Ciliopathies [PDF]

Journal of the American Society of Nephrology, 2007
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of life. Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, and tubulointerstitial fibrosis is ...
Friedhelm, Hildebrandt, Weibin, Zhou
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

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

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

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

Ciliopathies: an Update [PDF]

Pediatrics Research International Journal, 2015
Cilia are hair-like organelles that extend from the surface of almost all human cells. Nine doublet microtubule pairs make up the core of each cilium, known as the axoneme. Cilia are classified as motile or immotile; non motile or primary cilia are involved in sensing the extracellular environment. These organelles mediate perception of chemo-, mechano-
Alba Faus-Pérez, Amparo Sanchis-Calvo, Pilar Codoñer-Franch   +2 more
openaire   +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

Ciliopathies: Coloring outside of the lines [PDF]

American Journal of Medical Genetics Part A, 2020
AbstractCiliopathy syndromes are a diverse spectrum of disease characterized by a combination of cystic kidney disease, hepatobiliary disease, retinopathy, skeletal dysplasia, developmental delay, and brain malformations. Though generally divided into distinct disease categories based on the pattern of system involvement, ciliopathy syndromes are known
Alanna Strong, Dong Li, Frank Mentch, Emma Bedoukian, Erum A. Hartung, Kevin Meyers, Cara Skraban, Jessica Wen, Livija Medne, Joseph Glessner, Deborah Watson, Ian Krantz, Hakon Hakonarson   +12 more
openaire   +2 more sources