(Q21090640)

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Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis

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Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis (English)

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ectodermal dysplasia

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2

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Joakim Klar

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Joakim

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Klar

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24714551%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

6

object named as

Muhammad Iqbal

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Muhammad

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Iqbal

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24714551%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

8

object named as

Shahid Mahmood Baig

author given names

Shahid Mahmood

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Baig

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24714551%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Doroteya Raykova

1

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Doroteya

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Raykova

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Europe PubMed Central

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13 June 2020

Aysha Azhar

3

author given names

Aysha

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Azhar

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Europe PubMed Central

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13 June 2020

Tahir Naeem Khan

4

author given names

Tahir Naeem

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Khan

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24714551%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Naveed Altaf Malik

5

author given names

Naveed Altaf

author last names

Malik

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24714551%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Muhammad Tariq

7

author given names

Muhammad

author last names

Tariq

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24714551%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Niklas Dahl

9

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Niklas

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Dahl

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Europe PubMed Central

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13 June 2020

language of work or name

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publication date

2014

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Europe PubMed Central

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13 June 2020

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24714551%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24714551%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

e93607

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24714551%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

copyright license

Creative Commons Attribution 4.0 International

8 April 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Family with "pure" hair-nail ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0093607

21 January 2018

Towards a unified classification of the ectodermal dysplasias: Opportunities outweigh challenges

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

19 March 2017

Hair-nail dysplasia - a new pure autosomal dominant ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0093607

21 January 2018

Pili torti and Onychodysplasia

0 references

Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

19 March 2017

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

19 March 2017

Keratin disorders: from gene to therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

19 March 2017

Structural basis for heteromeric assembly and perinuclear organization of keratin filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

19 March 2017

Frizzled6 deficiency disrupts the differentiation process of nail development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

19 March 2017

'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

19 March 2017

Human elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

19 March 2017

Keratins in the human trophoblast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

12 September 2017

Immunostaining: detection of signaling protein location in tissues, cells and subcellular compartments.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

12 September 2017

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

12 September 2017

Proteomic analysis of hair shaft and nail plate.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

12 September 2017

The cornified envelope: a model of cell death in the skin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

12 September 2017

Krtap16, characterization of a new hair keratin-associated protein (KAP) gene complex on mouse chromosome 16 and evidence for regulation by Hoxc13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

12 September 2017

K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

12 September 2017

HOXC13 is involved in the regulation of human hair keratin gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

12 September 2017

The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

12 September 2017

Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

12 September 2017

An autonomous folding unit mediates the assembly of two-stranded coiled coils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

12 September 2017

A distinct 14 residue site triggers coiled-coil formation in cortexillin I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

12 September 2017

Expression of hair keratins in the adult nail unit: an immunohistochemical analysis of the onychogenesis in the proximal nail fold, matrix and nail bed.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

30 May 2018

Proteomic tools for the investigation of human hair structural proteins and evidence of weakness sites on hair keratin coil segments

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0093607

21 January 2018

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0093607

21 January 2018

A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

29 November 2018

Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979697

29 November 2018

Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24714551

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24714551

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/24714551

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24714551

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0093607

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24714551%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

2014PLoSO...993607R

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24714551%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24714551%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

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