Kadir R - Search Results

1

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

Wormser O, Gradstein L, Yogev Y, Perez Y, Kadir R, Goliand I, Sadka Y, El Riati S, Flusser H, Nachmias D, Birk R, Iraqi M, Kadar E, Gat R, Drabkin M, Halperin D, Horev A, Sivan S, Abdu U, Elia N, Birk OS. Wormser O, et al. Among authors: kadir r. Eur J Hum Genet. 2019 Jun;27(6):928-940. doi: 10.1038/s41431-019-0347-z. Epub 2019 Feb 5. Eur J Hum Genet. 2019. PMID: 30723319 Free PMC article. Clinical Trial.

2

Localization of the Drosophila Rad9 protein to the nuclear membrane is regulated by the C-terminal region and is affected in the meiotic checkpoint.

Kadir R, Bakhrat A, Tokarsky R, Abdu U. Kadir R, et al. PLoS One. 2012;7(5):e38010. doi: 10.1371/journal.pone.0038010. Epub 2012 May 29. PLoS One. 2012. PMID: 22666434 Free PMC article.

3

Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.

Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R, Volodarsky M, Sivan S, Narkis G, Birk OS. Cohen I, et al. Among authors: kadir r. Eur J Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860037 Free PMC article.

4

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

Perez Y, Gradstein L, Flusser H, Markus B, Cohen I, Langer Y, Marcus M, Lifshitz T, Kadir R, Birk OS. Perez Y, et al. Among authors: kadir r. Eur J Hum Genet. 2014 May;22(5):703-6. doi: 10.1038/ejhg.2013.212. Epub 2013 Sep 18. Eur J Hum Genet. 2014. PMID: 24045842 Free PMC article.

5

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS. Feinstein M, et al. Among authors: kadir r. J Med Genet. 2014 May;51(5):303-8. doi: 10.1136/jmedgenet-2013-101823. Epub 2014 Feb 27. J Med Genet. 2014. PMID: 24577744

6

CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.

Volodarsky M, Lichtig H, Leibson T, Sadaka Y, Kadir R, Perez Y, Liani-Leibson K, Gradstein L, Shaco-Levy R, Shorer Z, Frank D, Birk OS. Volodarsky M, et al. Among authors: kadir r. Hum Mol Genet. 2015 Nov 15;24(22):6485-91. doi: 10.1093/hmg/ddv357. Epub 2015 Sep 10. Hum Mol Genet. 2015. PMID: 26358778

7

UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.

Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS. Perez Y, et al. Among authors: kadir r. J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015-103352. Epub 2015 Nov 6. J Med Genet. 2016. PMID: 26545877

8

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.

Kadir R, Harel T, Markus B, Perez Y, Bakhrat A, Cohen I, Volodarsky M, Feintsein-Linial M, Chervinski E, Zlotogora J, Sivan S, Birnbaum RY, Abdu U, Shalev S, Birk OS. Kadir R, et al. PLoS Genet. 2016 Mar 23;12(3):e1005919. doi: 10.1371/journal.pgen.1005919. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 27008544 Free PMC article.

9

PPARγ regulates exocrine pancreas lipase.

Danino H, Naor RP, Fogel C, Ben-Harosh Y, Kadir R, Salem H, Birk R. Danino H, et al. Among authors: kadir r. Biochim Biophys Acta. 2016 Dec;1861(12 Pt A):1921-1928. doi: 10.1016/j.bbalip.2016.09.010. Epub 2016 Sep 20. Biochim Biophys Acta. 2016. PMID: 27663184

10

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.

Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M, Halperin D, Barber-Zucker S, Shalev H, Schreiber R, Gradstein L, Gurevich E, Zarivach R, Rutter GA, Landau D, Birk OS. Perez Y, et al. Among authors: kadir r. Brain. 2017 Apr 1;140(4):928-939. doi: 10.1093/brain/awx013. Brain. 2017. PMID: 28334855 Free PMC article.

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