[HTML][HTML] Nephronophthisis
R Salomon, S Saunier, P Niaudet - Pediatric nephrology, 2009 - Springer
Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic
tubulointerstitial nephritis that progress to terminal renal failure during the second decade …
tubulointerstitial nephritis that progress to terminal renal failure during the second decade …
Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
AL Bruel, B Franco, Y Duffourd, J Thevenon… - Journal of medical …, 2017 - jmg.bmj.com
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial,
oral and digital abnormalities associated with a wide range of additional features (polycystic …
oral and digital abnormalities associated with a wide range of additional features (polycystic …
[HTML][HTML] Diagnosis support systems for rare diseases: a scoping review
Introduction Rare diseases affect approximately 350 million people worldwide. Delayed
diagnosis is frequent due to lack of knowledge of most clinicians and a small number of …
diagnosis is frequent due to lack of knowledge of most clinicians and a small number of …
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel
(MKS) syndrome belong to the group of developmental autosomal recessive disorders that …
(MKS) syndrome belong to the group of developmental autosomal recessive disorders that …
[HTML][HTML] Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed
ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also …
ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also …
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
EM Valente, CV Logan, S Mougou-Zerelli, JH Lee… - Nature …, 2010 - nature.com
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are
ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by …
ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by …
[PDF][PDF] Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
L Baala, S Audollent, J Martinovic, C Ozilou… - The American Journal of …, 2007 - cell.com
Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by
central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal …
central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal …
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature
dysplasia or degeneration occurring preferentially in the kidney, retina and cerebellum. Here …
dysplasia or degeneration occurring preferentially in the kidney, retina and cerebellum. Here …
The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia
A Molla-Herman, R Ghossoub, T Blisnick… - Journal of cell …, 2010 - journals.biologists.com
Cilia and flagella are eukaryotic organelles involved in multiple cellular functions. The
primary cilium is generally non motile and found in numerous vertebrate cell types where it …
primary cilium is generally non motile and found in numerous vertebrate cell types where it …