Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome (Q28975745)

21 March 2017

title

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome (English)

1 reference

Peptidyl arginine deiminase 3

21 March 2017

main subject

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GOA release 2020-03-11

Transglutaminase 3

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GOA release 2020-03-11

citrullination

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GOA release 2020-03-11

uncombable hair syndrome

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20

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Marie-Claire Méchin

4

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Guy Serre

29

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Peter Nürnberg

21

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Ulrike Blume-Peytavi

30

Ulrike Blume-Peytavi

1 reference

21 March 2017

Vinzenz Oji

33

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Daniel C Swan

Daniel Swan

22

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Michel Simon

Michel Simon

36

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Anette Bygum

Anette Bygum

28

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Ramon Grimalt

Ramon Grimalt

27

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Darren T. Houniet

23

Darren Houniet

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32

Susanne Schoch

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19

Holger Thiele

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ORCID Public Data File 2021

21 March 2017

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author name string

F. Buket Ü Basmanav

1

1 reference

21 March 2017

Laura Cau

2

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21 March 2017

Aylar Tafazzoli

3

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21 March 2017

Sabrina Wolf

5

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21 March 2017

Maria Teresa Romano

6

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Frederic Valentin

7

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Henning Wiegmann

8

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21 March 2017

Anne Huchenq

9

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Rima Kandil

10

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Natalie Garcia Bartels

11

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21 March 2017

Arzu Kilic

12

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Susannah George

13

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Damian J. Ralser

14

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Stefan Bergner

15

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David J. P. Ferguson

16

1 reference

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Ana-Maria Oprisoreanu

17

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21 March 2017

Maria Wehner

18

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21 March 2017

Aline Büchner

24

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Lisa Weibel

25

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Nicola Wagner

26

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Eli Sprecher

31

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21 March 2017

Henning Hamm

34

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21 March 2017

Paul Farrant

35

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21 March 2017

Regina C. Betz

37

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21 March 2017

language of work or name

English

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publication date

1 December 2016

1 reference

American Journal of Human Genetics

21 March 2017

published in

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21 March 2017

volume

99

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21 March 2017

issue

6

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21 March 2017

page(s)

1292–1304

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describes a project that uses

21 March 2017

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5142115/fullTextXML

inferred from PubMed Central ID database lookup

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Epidermal transglutaminase (TGase 3) is required for proper hair development, but not the formation of the epidermal barrier

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23 March 2017

Uncombable hair syndrome

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23 March 2017

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Trichohyalin mechanically strengthens the hair follicle: multiple cross-bridging roles in the inner root shealth

23 March 2017

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Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis

23 March 2017

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The fate of trichohyalin. Sequential post-translational modifications by peptidyl-arginine deiminase and transglutaminases

23 March 2017

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Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line

23 March 2017

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The mouse wellhaarig (we) mutations result from defects in epidermal-type transglutaminase 3 (Tgm3)

7 April 2017

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3 June 2018

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3 June 2018

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The peptidylarginine deiminases expressed in human epidermis differ in their substrate specificities and subcellular locations.

3 June 2018

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3 June 2018

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Peptidylarginine deiminase isoforms 1-3 are expressed in the epidermis and involved in the deimination of K1 and filaggrin.

3 June 2018

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The major synovial targets of the rheumatoid arthritis-specific antifilaggrin autoantibodies are deiminated forms of the alpha- and beta-chains of fibrin

3 June 2018

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Human peptidylarginine deiminase type III: molecular cloning and nucleotide sequence of the cDNA, properties of the recombinant enzyme, and immunohistochemical localization in human skin

3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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26 November 2018

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Cheveux incoiffables--diagnostic, clinical and hair microscopic findings, and pathogenic studies.

26 November 2018

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Detection of deiminated proteins in rat skin: probing with a monospecific antibody after modification of citrulline residues

26 November 2018

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12 December 2020

Picture of the month. Uncombable hair (pili trianguli et canaliculi)

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12 December 2020

[Uncombable hair syndrome]

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12 December 2020

Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions

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12 December 2020

[Uncombable hair syndrome]

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12 December 2020

Pili trianguli canaliculi: uncombable hair syndrome in a family with apparent autosomal dominant inheritance

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12 December 2020

[Pili torti et canaliculi in ectodermal dysplasia]

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12 December 2020

IgM and IgA rheumatoid factors purified from rheumatoid arthritis sera boost the Fc receptor- and complement-dependent effector functions of the disease-specific anti-citrullinated protein autoantibodies

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Identifiers

DOI

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21 March 2017

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