(Q38324872)

English

Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

0 references

1 reference

based on heuristic

inferred from title

Sylvie Jaillard

2

object named as

Sylvie Jaillard

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

author name string

Virginie Vauthier

1

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Hubert Journel

3

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Christèle Dubourg

4

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Ralf Jockers

5

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Julie Dam

6

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

publication date

10 May 2012

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

106

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

345-350

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

Diet, obesity, and cardiovascular risk

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Obesity and leptin resistance: distinguishing cause from effect

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Positional cloning of the mouse obese gene and its human homologue

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Identification and expression cloning of a leptin receptor, OB-R

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

The leptin receptor promoter controls expression of a second distinct protein

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Endospanins regulate a postinternalization step of the leptin receptor endocytic pathway

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Novel B219/OB receptor isoforms: possible role of leptin in hematopoiesis and reproduction

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Silencing of OB-RGRP in mouse hypothalamic arcuate nucleus increases leptin receptor signaling and prevents diet-induced obesity

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Clathrin uncoating: Auxilin comes to life

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

The leptin receptor

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Cloning and characterization of a novel human leptin receptor overlapping transcript-like 1 gene (LEPROTL1).

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

The Rho-linked mental retardation protein OPHN1 controls synaptic vesicle endocytosis via endophilin A1

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Essential role of phosphoinositide metabolism in synaptic vesicle recycling

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Delayed reentry of recycling vesicles into the fusion-competent synaptic vesicle pool in synaptojanin 1 knockout mice

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Partial leptin deficiency and human adiposity.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

LEPROT and LEPROTL1 cooperatively decrease hepatic growth hormone action in mice

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.026

7 January 2021

Identifiers

10.1016/J.YMGME.2012.04.026

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 September 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q38324872&oldid=2041841817"