Cécile Julier
Directeur de l'unité, UMRS 958, Génétique des diabètes
Institution:
USPC - SET - SVS
Summary
Published articles Show More
A missense mutation in PPP1R15B causes a syndrome including diabetes, short stature and microcephaly
...Published in Diabetes
Dysregulated endoplasmic reticulum stress and phosphorylation of eukaryotic translation initiation factor 2α (eIF2α) are associated with pancreatic β-cell failure and diabetes. Here, we report the first homozygous mutation in the PPP1R15B gene (also known as constitutive repressor of eIF2α phosphorylation [CReP]) encoding the regulatory subunit of ...
A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.
Published in European Journal of Human Genetics
Insulin-dependent juvenile-onset diabetes may occur in the context of rare syndromic presentations suggesting monogenic inheritance rather than common multifactorial autoimmune type 1 diabetes. Here, we report the case of a Lebanese patient diagnosed with juvenile-onset insulin-dependent diabetes presenting ketoacidosis, early-onset retinopathy wit...
Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes
...Published in Diabetes
The common genetic loci that independently influence the risk of type 1 diabetes have largely been determined. Their interactions with age-at-diagnosis of type 1 diabetes, sex, or the major susceptibility locus, HLA class II, remain mostly unexplored. A large collection of more than 14,866 type 1 diabetes samples (6,750 British diabetic individuals...
Theses Show More
Contributions monogéniques dans le diabète insulino-dépendant au Liban
Le diabète, caractérisé par une concentration de glucose circulant élevée, est une maladie multifactorielle qui implique des facteurs génétiques et environnementaux. Le but de ce doctorat est d'identifier les gènes responsables de formes monogéniques du diabète insulino-dépendant (DID) dans la population libanaise, fortement consanguine. A l'aide d...
Recherche de gènes de prédiposition au diabète de type 1
FR
Etude génétique du diabète de type1 (recherche des gènes de prédisposition sur le chromosome 16)
FR
Experience
Directeur de l'unité
Université Paris Diderot
UMRS 958, Génétique des diabètes; UFR de Médecine
