(Q33553088)

English

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling (English)

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28 July 2017

24

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1 June 2020

Stilianos Antonarakis

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Periklis Makrythanasis

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Hiroshi Kurosaka

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Isabelle Stévant

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Federico A Santoni

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Christelle Borel

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Christelle Borel

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Laurence Faivre

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Christel Thauvin-Robinet

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Patrick Callier

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Pierre Calvel

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Armine Matevossian

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Pascal Bernard

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Anne Vannier

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Séverine Mazaud-Guittot

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Christèle Desdoits-Lethimonier

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Michel Guipponi

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Céline Zimmermann

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Françoise Kuhne

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Béatrice Conne

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Sandy Lambert

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Frederic Huet

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Francine Mugneret

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Marilyn D Resh

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Serge Nef

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publication date

1 May 2014

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28 July 2017

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1 June 2020

10

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5

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1 June 2020

e1004340

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1 June 2020

copyright license

Creative Commons Attribution 4.0 International

1 May 2014

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April 2022 Public Data File from Crossref

copyright status

0 references

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

1 reference

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21 June 2018

Pathogenic variants in non-protein-coding sequences.

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21 June 2018

Insulin and IGF1 receptors are essential for XX and XY gonadal differentiation and adrenal development in mice

1 reference

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21 June 2018

Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4006744

21 June 2018

Palmitoylation of Hedgehog proteins

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21 June 2018

Mammalian sex determination—insights from humans and mice

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21 June 2018

Sex and hedgehog: roles of genes in the hedgehog signaling pathway in mammalian sexual differentiation

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21 June 2018

Hedgehog signalling promotes germ cell survival in the rat testis

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21 June 2018

Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods

1 reference

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21 June 2018

Mechanisms and functions of Hedgehog signalling across the metazoa

1 reference

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21 June 2018

Spatial and temporal requirements for sonic hedgehog in the regulation of thalamic interneuron identity

1 reference

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21 June 2018

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination

1 reference

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21 June 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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21 June 2018

Mechanism and evolution of cytosolic Hedgehog signal transduction

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21 June 2018

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

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21 June 2018

The Sequence Alignment/Map format and SAMtools

1 reference

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21 June 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

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21 June 2018

Disorders of sex development in developmental syndromes

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21 June 2018

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

1 reference

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21 June 2018

Consensus statement on management of intersex disorders.

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21 June 2018

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

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21 June 2018

Hedgehog: functions and mechanisms

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21 June 2018

Hhat is a palmitoylacyltransferase with specificity for N-palmitoylation of Sonic Hedgehog

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4006744

21 June 2018

Disorders of sex development: a new definition and classification

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21 June 2018

A phytoestrogen-rich diet increases energy expenditure and decreases adiposity in mice

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21 June 2018

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

1 reference

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21 June 2018

A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis

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21 June 2018

A highly conserved amino-terminal region of sonic hedgehog is required for the formation of its freely diffusible multimeric form.

1 reference

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21 June 2018

Gene expression during sex determination reveals a robust female genetic program at the onset of ovarian development

1 reference

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21 June 2018

Hedgehog signaling and congenital malformations

1 reference

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21 June 2018

Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis

1 reference

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21 June 2018

Regulation of dendritic maintenance and growth by a mammalian 7-pass transmembrane cadherin

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21 June 2018

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly

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21 June 2018

Palmitoylation is required for the production of a soluble multimeric Hedgehog protein complex and long-range signaling in vertebrates

1 reference

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21 June 2018

Indian Hedgehog is an antagonist of Wnt signaling in colonic epithelial cell differentiation

1 reference

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21 June 2018

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

1 reference

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21 June 2018

Human Leydig cells are productively infected by some HIV-2 and SIV strains but not by HIV-1.

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21 June 2018

Development of a transgenic green fluorescent protein lineage marker for steroidogenic factor 1.

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21 June 2018

Disruption of testis cords by cyclopamine or forskolin reveals independent cellular pathways in testis organogenesis

1 reference

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21 June 2018

A developmental study of the Desert hedgehog-null mouse testis

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21 June 2018

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

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21 June 2018

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21 June 2018

Desert hedgehog (Dhh) gene is required in the mouse testis for formation of adult-type Leydig cells and normal development of peritubular cells and seminiferous tubules

1 reference

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21 June 2018

A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy

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21 June 2018

Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

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21 June 2018

Identification of a palmitic acid-modified form of human Sonic hedgehog

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21 June 2018

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

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21 June 2018

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

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21 June 2018

Cholesterol modification of hedgehog signaling proteins in animal development

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21 June 2018

Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain

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21 June 2018

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21 June 2018

Insulin, oxytocin, and vasopressin stimulate protein kinase C activity in adipocyte plasma membranes

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21 June 2018

New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome

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21 June 2018

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.

1 reference

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21 January 2018

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

1 reference

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21 January 2018

A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004340

21 January 2018

A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004340

21 January 2018

An acylatable residue of Hedgehog is differentially required in Drosophila and mouse limb development

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004340

21 January 2018

Paracetamol, aspirin, and indomethacin induce endocrine disturbances in the human fetal testis capable of interfering with testicular descent.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004340

21 January 2018

Characterization of human Sertoli cells in vitro

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unique survival in chrondrodysplasia-hermaphrodism syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24784881

12 December 2020

based on heuristic

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10.1371/JOURNAL.PGEN.1004340

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Europe PubMed Central

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1 June 2020

release_j3xb5ix3z5f5tcm2llytuxa57y

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https://api.fatcat.wiki/v0/release/j3xb5ix3z5f5tcm2llytuxa57y

24 November 2022

based on heuristic

mapped directly with Wikidata item

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Europe PubMed Central

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1 June 2020

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Europe PubMed Central

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1 June 2020

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