Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism (Q34482746)

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English	Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism	scientific article

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scholarly article

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PubMed publication ID

2 August 2017

Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism (English)

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2 August 2017

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based on heuristic

inferred from title

type 2 diabetes

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based on heuristic

inferred from title

intellectual disability

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based on heuristic

inferred from title

disability affecting intellectual abilities

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Anthony P Goldstone

2

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14 June 2020

Robin G Walters

13

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14 June 2020

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Suzanne I M Alsters

1

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14 June 2020

Jessica L Buxton

3

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14 June 2020

Anna Zekavati

4

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14 June 2020

Alona Sosinsky

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14 June 2020

Andrianos M Yiorkas

6

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14 June 2020

Susan Holder

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14 June 2020

Robert E Klaber

8

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14 June 2020

Nicola Bridges

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14 June 2020

Mieke M van Haelst

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14 June 2020

Carel W le Roux

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14 June 2020

Andrew J Walley

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14 June 2020

Michael Mueller

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14 June 2020

Alexandra I F Blakemore

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14 June 2020

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29 June 2015

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2 August 2017

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14 June 2020

10

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14 June 2020

6

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14 June 2020

e0131417

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14 June 2020

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Creative Commons Attribution 4.0 International

29 June 2015

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6 July 2018

Carboxypeptidases in disease: insights from peptidomic studies

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A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity

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KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation

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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

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6 July 2018

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6 July 2018

Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity

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6 July 2018

Emergence of anxiety-like behaviours in depressive-like Cpe(fat/fat) mice

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6 July 2018

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

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6 July 2018

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

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CNVs: harbingers of a rare variant revolution in psychiatric genetics

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Hypothalamic proopiomelanocortin processing and the regulation of energy balance

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6 July 2018

Obese carboxypeptidase E knockout mice exhibit multiple defects in peptide hormone processing contributing to low bone mineral density

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A method and server for predicting damaging missense mutations

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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6 July 2018

Peptidomics of Cpe(fat/fat) mouse brain regions: implications for neuropeptide processing

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6 July 2018

Absence of carboxypeptidase E leads to adult hippocampal neuronal degeneration and memory deficits

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6 July 2018

Neuropeptidomics to study peptide processing in animal models of obesity

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Roles of acetylation and other post-translational modifications in melanocortin function and interactions with endorphins.

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Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

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Identification of peptides from brain and pituitary of Cpe(fat)/Cpe(fat) mice

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Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity.

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Attenuated processing of proglucagon and glucagon-like peptide-1 in carboxypeptidase E-deficient mice

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Organization of the human carboxypeptidase E gene and molecular scanning for mutations in Japanese subjects with NIDDM or obesity

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Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

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The carboxypeptidase E knockout mouse exhibits endocrinological and behavioral deficits

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21 January 2018

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21 January 2018

A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance

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21 January 2018

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1 reference

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21 January 2018

Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3.

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10.1371/JOURNAL.PONE.0131417

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14 June 2020

2015PLoSO..1031417A

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14 June 2020

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14 June 2020

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