Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. (Q34650754)

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29 February 2020

title

Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis (English)

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29 February 2020

0 references

1 reference

Rodrigo Cepeda-Valdés

14

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29 February 2020

7

Dorothy Warburton

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29 February 2020

5

Marija Tadin-Strapps

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29 February 2020

author name string

Gina M DeStefano

1

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29 February 2020

Katherine A Fantauzzo

2

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29 February 2020

Lynn Petukhova

3

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29 February 2020

Mazen Kurban

4

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29 February 2020

Brynn Levy

6

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29 February 2020

Elizabeth T Cirulli

8

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29 February 2020

Yujun Han

9

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29 February 2020

Xiaoyun Sun

10

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29 February 2020

Yufeng Shen

11

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29 February 2020

Maryam Shirazi

12

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29 February 2020

Vaidehi Jobanputra

13

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29 February 2020

Julio Cesar Salas-Alanis

15

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29 February 2020

Angela M Christiano

16

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29 February 2020

language of work or name

English

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publication date

19 April 2013

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29 February 2020

number of pages

6

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Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

1 reference

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volume

110

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issue

19

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page(s)

7790-7795

1 reference

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Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis

29 February 2020

cites work

1 reference

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Fibroblast growth factor 13 is a microtubule-stabilizing protein regulating neuronal polarization and migration

7 July 2018

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X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3

7 July 2018

1 reference

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Developmentally regulated expression of intracellular Fgf11-13, hormone-like Fgf15 and canonical Fgf16, -17 and -20 mRNAs in the developing mouse molar tooth

7 July 2018

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Snake heart: a case of atavism in a human being

7 July 2018

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Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia

7 July 2018

1 reference

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Effects of FGF5 gene on fibre traits on Inner Mongolian cashmere goats

7 July 2018

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Correlation analysis between single nucleotide polymorphism of FGF5 gene and wool yield in rabbits

7 July 2018

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A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

7 July 2018

1 reference

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The long and the short of it: evidence that FGF5 is a major determinant of canine 'hair'-itability

7 July 2018

1 reference

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Phylogenetic memory of developing mammalian dentition.

7 July 2018

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Characterization and isolation of stem cell-enriched human hair follicle bulge cells

7 July 2018

1 reference

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Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

7 July 2018

1 reference

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Skeletal atavism in a miniature horse

7 July 2018

1 reference

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Bulge- and basal layer-specific expression of fibroblast growth factor-13 (FHF-2) in mouse skin

7 July 2018

1 reference

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

7 July 2018

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Fibroblast growth factor homologous factors and the islet brain-2 scaffold protein regulate activation of a stress-activated protein kinase

7 July 2018

1 reference

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Inherited hypertrichoses.

7 July 2018

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Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders

7 July 2018

1 reference

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Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

7 July 2018

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Control of hair growth and follicle size by VEGF-mediated angiogenesis

7 July 2018

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FGF5 as a regulator of the hair growth cycle: evidence from targeted and spontaneous mutations

7 July 2018

1 reference

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DEVELOPMENTAL MECHANISMS UNDERLYING THE FORMATION OF ATAVISMS

7 July 2018

1 reference

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On atavisms and atavistic genes.

7 July 2018

1 reference

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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1216412110

WNT signaling in the control of hair growth and structure.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1216412110

Congenital Hypertrichosis Lanuginosa

21 January 2018

1 reference

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Position effect in human genetic disease

26 October 2018

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12 December 2020

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers

1 reference

12 December 2020

Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2)

1 reference

12 December 2020

Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome

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12 December 2020

Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait

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12 December 2020

Identifiers

DOI

10.1073/PNAS.1216412110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23603273%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

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release_zneohtlbfvdfvn372m2bcve2gy

1 reference

Fatcat

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24 November 2022

mapped directly with Wikidata item

1 reference

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29 February 2020

PubMed publication ID

23603273

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23603273%20AND%20SRC:MED&resulttype=core&format=json