Larbi Amazit
Villejuif, 94800, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 19 publications
RNF216 variants found in patients with dementia, hypogonadotropic hypogonadism and severe ataxia deregulate autophagy.
Journal: The Journal of clinical endocrinology and metabolism
Published: August 18, 2025
Characterization of a Novel Variant in the NR3C1 Gene: Differentiating Glucocorticoid Resistance From Cushing Syndrome.
Journal: The Journal of clinical endocrinology and metabolism
Published: August 07, 2024
A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance.
Journal: European journal of endocrinology
Published: November 22, 2023
Loss of cAbl Tyrosine Kinase in Pulmonary Arterial Hypertension Causes Dysfunction of Vascular Endothelial Cells.
Journal: American journal of respiratory cell and molecular biology
Published: May 13, 2022
Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.
Journal: The lancet. Diabetes & endocrinology
Published: June 26, 2021
Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein.
Journal: Mitochondrion
Published: November 08, 2019
Functional Characterization of Glucocorticoid Receptor Variants Is Required to Avoid Misinterpretation of NGS Data.
Journal: Journal of the Endocrine Society
Published: January 18, 2019
Potentiation of mitotane action by rosuvastatin: New insights for adrenocortical carcinoma management.
Journal: International journal of oncology
Published: November 28, 2018
Crosstalk Between Glucocorticoid Receptor and Early-growth Response Protein 1 Accounts for Repression of Brain-derived Neurotrophic Factor Transcript 4 Expression.
Journal: Neuroscience
Published: September 15, 2018
ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 01, 2018
RNA-binding protein HuR enhances mineralocorticoid signaling in renal KC3AC1 cells under hypotonicity.
Journal: Cellular and molecular life sciences : CMLS
Published: April 14, 2017
HuR-Dependent Editing of a New Mineralocorticoid Receptor Splice Variant Reveals an Osmoregulatory Loop for Sodium Homeostasis.
Journal: Scientific reports
Published: December 21, 2016
Last Updated: 09/26/2026