Alessandra Mancini

London, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications

Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.

Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.

Journal: The Journal of clinical endocrinology and metabolism
Published: December 08, 2022

MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity.

MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity.

Journal: JCI insight
Published: August 03, 2022

Genetics of pubertal timing.

Genetics of pubertal timing.

Journal: Best practice & research. Clinical endocrinology & metabolism
Published: February 20, 2022

Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty.

Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty.

Journal: NPJ genomic medicine
Published: April 27, 2021

LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling.

LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling.

Journal: JCI insight
Published: September 12, 2019

EAP1 regulation of GnRH promoter activity is important for human pubertal timing.

EAP1 regulation of GnRH promoter activity is important for human pubertal timing.

Journal: Human molecular genetics
Published: November 19, 2018

DLK1/PREF1 marks a novel cell population in the human adrenal cortex.

DLK1/PREF1 marks a novel cell population in the human adrenal cortex.

Journal: The Journal of steroid biochemistry and molecular biology
Published: September 26, 2018

IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.

IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.

Journal: EMBO molecular medicine
Published: May 04, 2016
Showing 1-8 of 8

Last Updated: 09/26/2026