(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

1 reference

GOA release 2020-03-11

Transglutaminase 3

1 reference

GOA release 2020-03-11

citrullination

1 reference

GOA release 2020-03-11

uncombable hair syndrome

1 reference

20

0 references

Marie-Claire Méchin

4

0 references

Guy Serre

29

0 references

Peter Nürnberg

21

0 references

Ulrike Blume-Peytavi

30

Ulrike Blume-Peytavi

1 reference

21 March 2017

Vinzenz Oji

33

0 references

Daniel C Swan

Daniel Swan

22

0 references

Michel Simon

Michel Simon

36

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Anette Bygum

Anette Bygum

28

0 references

Ramon Grimalt

Ramon Grimalt

27

0 references

Darren T. Houniet

23

Darren Houniet

1 reference

21 March 2017

32

Susanne Schoch

1 reference

21 March 2017

19

Holger Thiele

1 reference

ORCID Public Data File 2021

21 March 2017

1 reference

author name string

F. Buket Ü Basmanav

1

1 reference

21 March 2017

Laura Cau

2

1 reference

21 March 2017

Aylar Tafazzoli

3

1 reference

21 March 2017

Sabrina Wolf

5

1 reference

21 March 2017

Maria Teresa Romano

6

1 reference

21 March 2017

Frederic Valentin

7

1 reference

21 March 2017

Henning Wiegmann

8

1 reference

21 March 2017

Anne Huchenq

9

1 reference

21 March 2017

Rima Kandil

10

1 reference

21 March 2017

Natalie Garcia Bartels

11

1 reference

21 March 2017

Arzu Kilic

12

1 reference

21 March 2017

Susannah George

13

1 reference

21 March 2017

Damian J. Ralser

14

1 reference

21 March 2017

Stefan Bergner

15

1 reference

21 March 2017

David J. P. Ferguson

16

1 reference

21 March 2017

Ana-Maria Oprisoreanu

17

1 reference

21 March 2017

Maria Wehner

18

1 reference

21 March 2017

Aline Büchner

24

1 reference

21 March 2017

Lisa Weibel

25

1 reference

21 March 2017

Nicola Wagner

26

1 reference

21 March 2017

Eli Sprecher

31

1 reference

21 March 2017

Henning Hamm

34

1 reference

21 March 2017

Paul Farrant

35

1 reference

21 March 2017

Regina C. Betz

37

1 reference

21 March 2017

language of work or name

English

0 references

publication date

1 December 2016

1 reference

American Journal of Human Genetics

21 March 2017

published in

1 reference

21 March 2017

volume

99

1 reference

21 March 2017

issue

6

1 reference

21 March 2017

page(s)

1292–1304

1 reference

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

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

23 March 2017

Uncombable hair syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

The Sequence Alignment/Map format and SAMtools

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

Fast and accurate short read alignment with Burrows-Wheeler transform

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

Structural basis for Ca(2+)-induced activation of human PAD4

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

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

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

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

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

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

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

V3 stain-free workflow for a practical, convenient, and reliable total protein loading control in western blotting

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

The biology of hair diversity.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

Update on peptidylarginine deiminases and deimination in skin physiology and severe human diseases.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

Autoantibodies to citrullinated proteins: ACPA.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

[Pili canaliculi (uncombable hair syndrome or spun glass hair syndrome). A scanning electron microscope study of ten new cases (author's transl)]

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

Uncombable hair: a condition with autosomal dominant inheritance

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

Uncombable hair (pili trianguli et canaliculi): evidence for dominant inheritance with complete penetrance based on scanning electron microscopy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

A case of uncombable hair syndrome: light microscopy, trichoscopy and scanning electron microscopy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

Deimination is regulated at multiple levels including auto-deimination of peptidylarginine deiminases.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5142115

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

26 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

[Uncombable hair syndrome]

1 reference

12 December 2020

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

1 reference

12 December 2020

[Uncombable hair syndrome]

1 reference

12 December 2020

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

1 reference

12 December 2020

[Pili torti et canaliculi in ectodermal dysplasia]

1 reference

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

1 reference

12 December 2020

10.1016/J.AJHG.2016.10.004

Identifiers

DOI

1 reference

21 March 2017

0 references

1 reference