(Q55671556)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21188418%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

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

1 reference

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18 January 2020

1 reference

3

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18 January 2020

6

Wasim Ahmad

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21188418%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Naveed Wasif

1

1 reference

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18 January 2020

Syed Kamran ul-Hassan Naqvi

2

1 reference

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18 January 2020

Nadir Ali

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21188418%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Muhammad Ansar

5

1 reference

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18 January 2020

language of work or name

English

0 references

publication date

28 December 2010

1 reference

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18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21188418%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

129

1 reference

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18 January 2020

page(s)

419-424

1 reference

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18 January 2020

issue

4

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00439-010-0938-9

18 January 2020

exact match

0 references

cites work

Alopecia universalis associated with a mutation in the human hairless gene

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis

21 January 2018

1 reference

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The molecular basis of human keratin disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Mutation of a type II keratin gene (K6a) in pachyonychia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Desmoglein 4 in Hair Follicle Differentiation and Epidermal Adhesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Phenotypes, genotypes and their contribution to understanding keratin function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

New consensus nomenclature for mammalian keratins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Hair follicle-specific keratins and their diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Characterization and prediction of alternative splice sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Messenger RNA surveillance: neutralizing natural nonsense

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0938-9

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes

21 January 2018

1 reference

12 December 2020

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

1 reference

12 December 2020

Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris

1 reference

12 December 2020

Nail that mutation-keratin 17 defect in late-onset pachyonychia.

1 reference

12 December 2020

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)

1 reference

12 December 2020

L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma

1 reference

12 December 2020

Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3.

1 reference

12 December 2020

10.1007/S00439-010-0938-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21188418%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

18 January 2020

0 references

1 reference