(Q34591440)

3 August 2017

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses (English)

1 reference

3 August 2017

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses (English)

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

epidermolysis bullosa simplex

7 November 2022

main subject

patient

0 references

1 reference

5

A. S. Paller

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1717157

7 November 2022

author name string

P. A. Coulombe

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1717157

7 November 2022

M. E. Hutton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1717157

7 November 2022

A. Letai

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1717157

7 November 2022

A. Hebert

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1717157

7 November 2022

E. Fuchs

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1717157

7 November 2022

language of work or name

English

0 references

publication date

1 September 1991

1 reference

3 August 2017

20 September 1991

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1717157

full work available at URL

7 November 2022

https://api.elsevier.com/content/article/PII:009286749190051Y?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

https://api.elsevier.com/content/article/PII:009286749190051Y?httpAccept=text/plain

7 November 2022

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

7 November 2022

1 reference

3 August 2017

66

1 reference

3 August 2017

1301-1311

1 reference

3 August 2017

6

1 reference

Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells

3 August 2017

1 reference

24 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1016/S0092-8674(75)80001-8

The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines

2

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments

7 November 2022

3

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Genetically Induced Abnormalities of Epidermal Differentiation and Ultrastructure in Ichthyoses and Epidermolyses: Pathogenesis, heterogeneity, Fetal Manifestation, and Prenatal Diagnosis

7 November 2022

4

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

7 November 2022

6

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Elucidating the early stages of keratin filament assembly

7 November 2022

7

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Expression of keratin K14 in the epidermis and hair follicle: insights into complex programs of differentiation

7 November 2022

8

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro

7 November 2022

9

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

A specific defect in glycosylation of epidermal cell membranes. Definition in skin from patients with epidermolysis bullosa simplex

7 November 2022

11

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Epidermolysis bullosa simplex: identification of a kindred with autosomal recessive transmission of the Weber-Cockayne variety

7 November 2022

12

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry

7 November 2022

13

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Changes in keratin gene expression during terminal differentiation of the keratinocyte

7 November 2022

16

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Type I and type II keratins have evolved from lower eukaryotes to form the epidermal intermediate filaments in mammalian skin

7 November 2022

17

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Assembly properties of dominant and recessive mutations in the small mouse neurofilament (NF-L) subunit

7 November 2022

18

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne

7 November 2022

19

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

The cDNA sequence of a human epidermal keratin: Divergence of sequence but conservation of structure among intermediate filament proteins

7 November 2022

20

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain

7 November 2022

22

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis

7 November 2022

23

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Epidermolysis bullosa simplex (Koebner) is a keratin disorder. Ultrastructural and immunohistochemical study

7 November 2022

24

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Structure of a gene for the human epidermal 67-kDa keratin

7 November 2022

25

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

7 November 2022

Amplification of RNA

26

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex

7 November 2022

27

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: Specific domain functions in keratin stabilization and filament formation

7 November 2022

29

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Remarkable conservation of structure among intermediate filament genes

7 November 2022

30

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

The 50- and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies.

7 November 2022

31

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Primary and secondary structure of hamster vimentin predicted from the nucleotide sequence

7 November 2022

33

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Regulated expression of differentiation-associated keratins in cultured epidermal cells detected by monospecific antibodies to unique peptides of mouse epidermal keratins

7 November 2022

35

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

A group of type I keratin genes on human chromosome 17: characterization and expression

7 November 2022

36

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12

7 November 2022

37

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Generalized Dominant Epidermolysis Bullosa Simplex: Decreased Activity of a Gelatinolytic Protease in Cultured Fibroblasts as a Phenotypic Marker

7 November 2022

38

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

DNA sequencing with chain-terminating inhibitors

7 November 2022

39

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing

7 November 2022

40

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Deficiency of galactosylhydroxylysyl glucosyltransferase, an enzyme of collagen synthesis, in a family with dominant epidermolysis bullosa simplex

7 November 2022

41

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Use of monospecific antisera and cRNA probes to localize the major changes in keratin expression during normal and abnormal epidermal differentiation

7 November 2022

43

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

7 November 2022

46

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

Characterization of dominant and recessive assembly-defective mutations in mouse neurofilament NF-M.

7 November 2022

47

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

A new small (40 kd) keratin filament protein made by some cultured human squamous cell carcinomas

7 November 2022

48

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

The mesothelial keratins: a new family of cytoskeletal proteins identified in cultured mesothelial cells and nonkeratinizing epithelia

7 November 2022

49

1 reference

https://api.crossref.org/works/10.1016/0092-8674(91)90051-Y

7 November 2022

Identifiers

1 reference

3 August 2017

1 reference