Presentation
Contact
Irina is an intern in medical biology and she is currently following the "Integrative Biology and Physiology" Master 2 of Paris-Diderot University.
She is doing a 9 months' internship on gene therapy for an inherited metabolic disease : leukinosis.
Resources & publications
-
2019Journal (source)Hum. Mol. Genet.Human IFT52 mutations uncover a novel role for the protein in microtubule dyn...
-
2019Journal (source)EMBO J.
Cell type-specific regulation of ciliary transition zone assembly in vertebra...
-
Journal (source)Am. J. Physiol. Renal Physiol.
Casein kinase 1ε and 1α as novel players in polycystic kidney disease and mec...
-
2019Journal (source)Hum. Mol. Genet.
Functional characterization of tektin-1 in motile cilia and evidence for TEKT...
-
2018Journal (source)Hum. Mol. Genet.
A human patient-derived cellular model of Joubert syndrome reveals ciliary de...
-
2018Journal (source)Nat Commun
KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone...
-
2017Journal (source)Hum. Mutat.
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
-
2016Journal (source)PLoS Genet.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YA...
-
2016Journal (source)Nat. Cell Biol.
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition ...
-
2016Journal (source)Nat Commun
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule...
-
2019Journal (source)J Biomed Inform
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
-
2017Journal (source)Am. J. Hum. Genet.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
-
2021Journal (source)Kidney Int
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena...
-
2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
-
2015Journal (source)J Cell Biol
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the cilia...
-
2014Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
-
2012Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
-
2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
-
2010Journal (source)Nat Genet
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat...
-
2009Journal (source)Hum Mutat
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
-
Journal (source)Stud Health Technol Inform
Identification of Similar Patients Through Medical Concept Embedding from Ele...
-
2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
-
2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
-
2023Journal (source)Front Mol Biosci
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medu...
-
2023Journal (source)Sci Data
Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidne...
-
2023Journal (source)Kidney Int
Repurposing small molecules for nephronophthisis and related renal ciliopathies.
-
Journal (source)Proc Natl Acad Sci U S A
Agonists of prostaglandin E2 receptors as potential first in class treatment ...
-
2022Journal (source)Hum Mol Genet
The renal inflammatory network of nephronophthisis.
-
2022Journal (source)Hum Mutat
Targeted next-generation sequencing in a large series of fetuses with severe ...
-
2018Journal (source)Hum Mutat
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurr...
-
2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
-
2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.