Abstract Search

hrp0098p2-376 | Late Breaking | ESPE2024

Central Precocious Puberty and MKRN3 variants: new insights into the protein RING finger structure, and on protein ubiquitination and localization

Bencivenga Debora , Stampone Emanuela , Palumbo Stefania , Hafiz Ali Akbar , Cirillo Grazia , Aiello Francesca , Miraglia del Giudice Emanuele , Borriello Adriana , Grandone Anna

Background: MKRN3 (Makorin Ring Finger Protein 3) is a maternally imprinted intronless gene located in the Prader-Willi syndrome locus (chromosome 15q11.2-q13). It is recognized that MKRN3 loss-of-function mutations are the primary cause of familial central precocious puberty (CPP). The MKRN3 protein primarily acts as an E3 ubiquitin ligase, and its activity is essential for controlling the timing of puberty, functioning as a brake on gonadotropin-releasing ho...

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hrp0082fc11.3 | Pituitary | ESPE2014

Early-Onset Central Diabetes Insipidus is Associated with De Novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations^*

Allegri Anna Elsa Maria , Iorgi Natascia Di , Perrotta Silverio , Ragione Fulvio Della , Scianguetta Saverio , Borriello Adriana , Ferraro Marcella , Santoro Claudia , Calcagno Annalisa , Napoli Flavia , Giaccardi Marta , Cappa Marco , Salerno Maria Carolina , Maghnie Mohamad

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

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hrp0082p1-d3-185 | Pituitary | ESPE2014

Early-Onset Central Diabetes Insipidus is Associated with de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations

Allegri Anna Elsa Maria , Iorgi Natascia Di , Perrotta Silverio , Ragione Fulvio Della , Scianguetta Saverio , Borriello Adriana , Ferraro Marcella , Santoro Claudia , Calcagno Annalisa , Napoli Flavia , Giaccardi Marta , Cappa Marco , Salerno Maria Carolina , Maghnie Mohamad

Background: Children with familial forms of central diabetes insipidus (CDI) display polyuria and polydipsia within the first years of life.Objective and hypotheses: We hypothesize that children with an early-onset idiopathic CDI might be affected by de novo genetic mutations.Method: Eleven children aged between 1 month and 7 years with polyuria and polydipsia and negative family history were enrolled. In nine of them with...

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ESPE Abstracts

Central Precocious Puberty and MKRN3 variants: new insights into the protein RING finger structure, and on protein ubiquitination and localization

Early-Onset Central Diabetes Insipidus is Associated with De Novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations^*

Early-Onset Central Diabetes Insipidus is Associated with de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations

BiosciAbstracts

ESPE Abstracts

Central Precocious Puberty and MKRN3 variants: new insights into the protein RING finger structure, and on protein ubiquitination and localization

Early-Onset Central Diabetes Insipidus is Associated with De Novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations*

Early-Onset Central Diabetes Insipidus is Associated with de novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations

BiosciAbstracts

Early-Onset Central Diabetes Insipidus is Associated with De Novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations^*