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Contents

   



(Top)
  


1 Pathology  




2 See also  




3 References  




4 Further reading  




5 External links  













Keratin 14: Difference between revisions






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{{Short description|Protein-coding gene in the species Homo sapiens}}

<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->

{{Infobox_gene}}

{{PBB_Controls

'''Keratin 14''' is a member of the [[type I keratin]] family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined.<ref name="pmid6186381">{{cite journal | vauthors = Hanukoglu I, Fuchs E | title = The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins | journal = Cell | volume = 31 | issue = 1 | pages = 243–52 | date = November 1982 | pmid = 6186381 | doi = 10.1016/0092-8674(82)90424-X | s2cid = 35796315 | url = https://zenodo.org/record/890743 }}</ref>

| update_page = yes

Keratin 14 is also known as '''cytokeratin-14''' ('''CK-14''') or '''keratin-14''' ('''KRT14'''). In humans it is encoded by the ''KRT14'' [[gene]].<ref name="pmid1717157">{{cite journal | vauthors = Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E | title = Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses | journal = Cell | volume = 66 | issue = 6 | pages = 1301–11 | date = September 1991 | pmid = 1717157 | doi = 10.1016/0092-8674(91)90051-Y | s2cid = 11965913 }}</ref><ref name="pmid16831889">{{cite journal | vauthors = Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW | display-authors = 6 | title = New consensus nomenclature for mammalian keratins | journal = The Journal of Cell Biology | volume = 174 | issue = 2 | pages = 169–74 | date = July 2006 | pmid = 16831889 | pmc = 2064177 | doi = 10.1083/jcb.200603161 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3861}}</ref>

| require_manual_inspection = no

| update_protein_box = yes

| update_summary = no

| update_citations = yes

}}


⚫

Keratin 14 is usually found as a heterodimer with type II [[keratin 5]] and form the [[cytoskeleton]] of [[epithelial cell]]s.

<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->

{{GNF_Protein_box

| image =

| image_source =

| PDB =

| Name = Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)

| HGNCid = 6416

| Symbol = KRT14

| AltSymbols =; CK14; EBS3; EBS4; K14

| OMIM = 148066

| ECnumber =

| Homologene = 81522

| MGIid = 96688

| GeneAtlas_image1 = PBB_GE_KRT14_209351_at_tn.png

| Function = {{GNF_GO|id=GO:0005200 |text = structural constituent of cytoskeleton}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0030280 |text = structural constituent of epidermis}}

| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0005882 |text = intermediate filament}} {{GNF_GO|id=GO:0045095 |text = keratin filament}}

| Process = {{GNF_GO|id=GO:0008150 |text = biological_process}} {{GNF_GO|id=GO:0008544 |text = epidermis development}}

| Orthologs = {{GNF_Ortholog_box

| Hs_EntrezGene = 3861

| Hs_Ensembl = ENSG00000186847

| Hs_RefseqProtein = NP_000517

| Hs_RefseqmRNA = NM_000526

| Hs_GenLoc_db =

| Hs_GenLoc_chr = 17

| Hs_GenLoc_start = 36992070

| Hs_GenLoc_end = 36996699

| Hs_Uniprot = P02533

| Mm_EntrezGene = 16664

| Mm_Ensembl = ENSMUSG00000045545

| Mm_RefseqmRNA = NM_016958

| Mm_RefseqProtein = NP_058654

| Mm_GenLoc_db =

| Mm_GenLoc_chr = 11

| Mm_GenLoc_start = 100019252

| Mm_GenLoc_end = 100023600

| Mm_Uniprot = Q61782

}}

}}

'''Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)''', also known as '''KRT14''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3861| accessdate = }}</ref>

⚫

'''Keratin 14''' is a [[type I cytokeratin]]. It is usually found as a heterotetramer with two [[keratin 5]] molecules, a [[type II keratin]]. Together they form the [[cytoskeleton]] of [[epithelial cell]]s.



==Pathology==

==Pathology==

Mutations in the genes for these keratins are associated with [[epidermolysis bullosa]] simplex and Dermatopathy Pigmentosa Reticularis, both of which are autosomal dominant mutations.<ref name="pmid16960809">{{cite journal | author = Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E | title = Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14 | journal = Am. J. Hum. Genet. | volume = 79 | issue = 4 | pages = 724–30 | year = 2006 | pmid = 16960809 | doi = 10.1086/507792 | issn = }}</ref>

Mutations in the genes for these keratins are associated with [[epidermolysis bullosa]] simplex<ref>{{cite journal | vauthors = Bardhan A, Bruckner-Tuderman L, Chapple IL, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH | display-authors = 6 | title = Epidermolysis bullosa | journal = Nature Reviews. Disease Primers | volume = 6 | issue = 1 | pages = 78 | date = September 2020 | pmid = 32973163 | doi = 10.1038/s41572-020-0210-0 | s2cid = 221861310 }}</ref> and [[dermatopathia pigmentosa reticularis]], both of which are autosomal dominant mutations.<ref name="pmid16960809">{{cite journal | vauthors = Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E | display-authors = 6 | title = Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14 | journal = American Journal of Human Genetics | volume = 79 | issue = 4 | pages = 724–30 | date = October 2006 | pmid = 16960809 | pmc = 1592572 | doi = 10.1086/507792 }}</ref>


==References==

== See also ==

*[[34βE12]] (keratin 903)

== References ==

{{Reflist}}

{{Reflist}}


==Further reading==

== Further reading ==

{{refbegin | 2}}

{{refbegin | 2}}

* {{cite journal | vauthors = Schuilenga-Hut PH, van der Vlies P, Jonkman MF, Waanders E, Buys CH, Scheffer H | title = Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations | journal = Human Mutation | volume = 21 | issue = 4 | pages = 447 | date = April 2003 | pmid = 12655565 | doi = 10.1002/humu.9124 | s2cid = 20859513 | doi-access = free }}

{{PBB_Further_reading

* {{cite journal | vauthors = Rosenberg M, Fuchs E, Le Beau MM, Eddy RL, Shows TB | title = Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12 | journal = Cytogenetics and Cell Genetics | volume = 57 | issue = 1 | pages = 33–8 | year = 1991 | pmid = 1713141 | doi = 10.1159/000133109 }}

| citations =

*{{cite journal | author=Schuilenga-Hut PH, Vlies P, Jonkman MF, ''et al.'' |title=Mutation analysis of the entire keratin 5 and 14 genesinpatients with epidermolysis bullosa simplex and identification of novel mutations. |journal=Hum. Mutat. |volume=21 |issue= 4 |pages= 447 |year= 2003 |pmid= 12655565 |doi= 10.1002/humu.9124 }}

* {{cite journal | vauthors = Bonifas JM, Rothman AL, Epstein EH | title = Epidermolysis bullosa simplex: evidenceintwo families for keratin gene abnormalities | journal = Science | volume = 254 | issue = 5035 | pages = 1202–5 | date = November 1991 | pmid = 1720261 | doi = 10.1126/science.1720261 | bibcode = 1991Sci...254.1202B }}

*{{cite journal | author=Rosenberg M, Fuchs E, Le Beau MM, ''et al.'' |title=Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. |journal=Cytogenet. Cell Genet. |volume=57 |issue= 1 |pages= 33-8 |year= 1991 |pmid= 1713141 |doi= }}

* {{cite journal | vauthors = Albers K, Fuchs E | title = The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines | journal = The Journal of Cell Biology | volume = 105 | issue = 2 | pages = 791–806 | date = August 1987 | pmid = 2442174 | pmc = 2114764 | doi = 10.1083/jcb.105.2.791 }}

*{{cite journal | author=Coulombe PA, Hutton ME, Letai A, ''et al.'' |title=Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. |journal=Cell |volume=66 |issue= 6 |pages= 1301-11 |year= 1991 |pmid= 1717157 |doi= 10.1016/0092-8674(91)90051-Y}}

* {{cite journal | vauthors = Rosenberg M, RayChaudhury A, Shows TB, Le Beau MM, Fuchs E | title = A group of type I keratin genes on human chromosome 17: characterization and expression | journal = Molecular and Cellular Biology | volume =8 | issue = 2 | pages = 722–36 | date = February 1988 | pmid = 2451124 | pmc = 363198 | doi = 10.1128/mcb.8.2.722 }}

*{{cite journal | author=Bonifas JM, Rothman AL, Epstein EH |title=Epidermolysis bullosa simplex: evidenceintwo families for keratin gene abnormalities. |journal=Science |volume=254 |issue= 5035 |pages= 1202-5 |year= 1991 |pmid= 1720261 |doi= 10.1126/science.1720261}}

* {{cite journal | vauthors = Marchuk D, McCrohon S, Fuchs E | title = Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elementsinthe regulatory region of the gene | journal = Proceedings of the National Academy of Sciences of the United States of America | volume =82 | issue = 6 | pages = 1609–13 | date = March 1985 | pmid = 2580298 | pmc = 397321 | doi = 10.1073/pnas.82.6.1609 | doi-access = free | bibcode = 1985PNAS...82.1609M }}

*{{cite journal | author=Albers K, Fuchs E |title=The expressionofmutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines. |journal=J. Cell Biol. |volume=105 |issue= 2 |pages= 791-806 |year= 1987 |pmid= 2442174 |doi= 10.1083/jcb.105.2.791}}

* {{cite journal | vauthors = Marchuk D, McCrohon S, Fuchs E | title = Remarkable conservationofstructure among intermediate filament genes | journal = Cell | volume =39 | issue = 3 Pt 2 | pages = 491–8 | date = December 1984 | pmid = 6210150 | doi = 10.1016/0092-8674(84)90456-2 | s2cid = 32897738 }}

*{{cite journal | author=Rosenberg M, RayChaudhury A, Shows TB, ''et al.'' |title=A group of type I keratin genes on human chromosome 17: characterization and expression. |journal=Mol. Cell. Biol. |volume=8 |issue= 2 |pages= 722-36 |year= 1988 |pmid= 2451124 |doi= }}

* {{cite journal | vauthors = Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, Leigh IM, Lane EB | display-authors = 6 | title = Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function | journal = Nature Genetics | volume =5 | issue = 3 | pages = 294–300 | date = November 1993 | pmid = 7506097 | doi = 10.1038/ng1193-294 | s2cid = 155219 }}

*{{cite journal | author=Marchuk D, McCrohon S, Fuchs E |title=Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=82 |issue= 6 |pages= 1609-13 |year= 1985 |pmid= 2580298 |doi= 10.1073/pnas.82.6.1609}}

* {{cite journal | vauthors = Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH | title = A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375 | journal = Human Molecular Genetics | volume =2 | issue = 11 | pages = 1971–2 | date = November 1993 | pmid = 7506606 | doi = 10.1093/hmg/2.11.1971 }}

*{{cite journal | author=Hanukoglu I, Fuchs E |title=The cDNA sequenceofa human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins. |journal=Cell |volume=31 |issue= 1 |pages= 243-52 |year= 1983 |pmid= 6186381 |doi= }}

* {{cite journal | vauthors = Chan Y, Anton-LamprechtI, Yu QC, Jäckel A, Zabel B, Ernst JP, Fuchs E | title = A human keratin 14 "knockout": the absenceofK14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein | journal = Genes & Development | volume =8 | issue = 21 | pages = 2574–87 | date = November 1994 | pmid = 7525408 | doi = 10.1101/gad.8.21.2574 | doi-access = free }}

*{{cite journal | author=Marchuk D, McCrohon S, Fuchs E |title=Remarkable conservationofstructure among intermediate filament genes. |journal=Cell |volume=39 |issue= 3 Pt 2 |pages= 491-8 |year= 1985 |pmid= 6210150 |doi= }}

* {{cite journal | vauthors = Yamanishi K, Matsuki M, Konishi K, Yasuno H | title = A novel mutationofLeu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex | journal = Human Molecular Genetics | volume = 3 | issue = 7 | pages = 1171–2 | date = July 1994 | pmid = 7526926 | doi = 10.1093/hmg/3.7.1171 }}

*{{cite journal | author=Rugg EL, Morley SM, Smith FJ, ''et al.'' |title=Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. |journal=Nat. Genet. |volume=5 |issue= 3 |pages= 294-300 |year= 1994 |pmid= 7506097 |doi= 10.1038/ng1193-294 }}

* {{cite journal | vauthors = Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M | title = A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex | journal = Nature Genetics | volume =3 | issue = 4 | pages = 327–32 | date = April 1993 | pmid = 7526933 | doi = 10.1038/ng0493-327 | s2cid = 20287067 }}

*{{cite journal | author=Chen MA, Bonifas JM, Matsumura K, ''et al.'' |title=A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375. |journal=Hum. Mol. Genet. |volume=2 |issue= 11 |pages= 1971-2 |year= 1994 |pmid= 7506606 |doi= }}

* {{cite journal | vauthors = Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH | title = Keratin 14 gene mutationsin patients with epidermolysis bullosa simplex | journal = The Journal of Investigative Dermatology | volume = 105 | issue = 4 | pages = 629–32 | date = October 1995 | pmid = 7561171 | doi = 10.1111/1523-1747.ep12323846 | doi-access = free }}

*{{cite journal | author=Chan Y, Anton-Lamprecht I, Yu QC, ''et al.'' |title=A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. |journal=Genes Dev. |volume=8 |issue= 21 |pages= 2574-87 |year= 1994 |pmid= 7525408 |doi= 10.1101/gad.8.21.2574}}

* {{cite journal | vauthors = Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P | display-authors = 6 | title = A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex | journal = Human Mutation | volume =2 | issue = 1 | pages = 37–42 | year = 1993 | pmid = 7682883 | doi = 10.1002/humu.1380020107 | s2cid = 8054726 | doi-access = free }}

*{{cite journal | author=Yamanishi K, Matsuki M, Konishi K, Yasuno H |title=A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motifofkeratin 14 in epidermolysis bullosa simplex. |journal=Hum. Mol. Genet. |volume=3 |issue= 7 |pages= 1171-2 |year= 1995 |pmid= 7526926 |doi= }}

* {{cite journal | vauthors = Stephens K, Sybert VP, Wijsman EM, Ehrlich P, Spencer A | title = Akeratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis | journal = The JournalofInvestigative Dermatology | volume = 101 | issue = 2 | pages = 240–3 | date = August 1993 | pmid = 7688405 | doi = 10.1111/1523-1747.ep12365079 | doi-access = free }}

*{{cite journal | author=Hovnanian A, Pollack E, Hilal L, ''et al.'' |title=A missense mutation in the rod domainofkeratin 14 associated with recessive epidermolysis bullosa simplex. |journal=Nat. Genet. |volume=3 |issue= 4 |pages= 327-32 |year= 1995 |pmid= 7526933 |doi= 10.1038/ng0493-327 }}

* {{cite journal | vauthors = Chan YM, Cheng J, Gedde-Dahl T, Niemi KM, Fuchs E | title = Genetic analysisofa severe case of Dowling-Meara epidermolysis bullosa simplex | journal = The Journal of Investigative Dermatology | volume = 106 | issue = 2 | pages = 327–34 | date = February 1996 | pmid = 8601736 | doi = 10.1111/1523-1747.ep12342985 | doi-access = free }}

*{{cite journal | author=Chen H, Bonifas JM, Matsumura K, ''et al.'' |title=Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. |journal=J. Invest. Dermatol. |volume=105 |issue= 4 |pages= 629-32 |year= 1995 |pmid= 7561171 |doi= 10.1111/1523-1747.ep12323846}}

* {{cite journal | vauthors = Paladini RD, Takahashi K, Bravo NS, Coulombe PA | title = Onset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: defining a potential role for keratin 16 | journal = The Journal of Cell Biology | volume = 132 | issue = 3 | pages = 381–97 | date = February 1996 | pmid = 8636216 | pmc = 2120730 | doi = 10.1083/jcb.132.3.381 }}

*{{cite journal | author=Humphries MM, Sheils DM, Farrar GJ, ''et al.'' |title=A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. |journal=Hum. Mutat. |volume=2 |issue= 1 |pages= 37-42 |year= 1993 |pmid= 7682883 |doi= 10.1002/humu.1380020107 }}

*{{cite journal | author=Stephens K, Sybert VP, Wijsman EM, ''et al.'' |title=A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. |journal=J. Invest. Dermatol. |volume=101 |issue= 2 |pages= 240-3 |year= 1993 |pmid= 7688405 |doi= 10.1111/1523-1747.ep12365079}}

*{{cite journal | author=Chan YM, Cheng J, Gedde-Dahl T, ''et al.'' |title=Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex. |journal=J. Invest. Dermatol. |volume=106 |issue= 2 |pages= 327-34 |year= 1996 |pmid= 8601736 |doi= 10.1111/1523-1747.ep12342985}}

*{{cite journal | author=Paladini RD, Takahashi K, Bravo NS, Coulombe PA |title=Onset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: defining a potential role for keratin 16. |journal=J. Cell Biol. |volume=132 |issue= 3 |pages= 381-97 |year= 1996 |pmid= 8636216 |doi= 10.1083/jcb.132.3.381}}

*{{cite journal | author=Jonkman MF, Heeres K, Pas HH, ''et al.'' |title=Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. |journal=J. Invest. Dermatol. |volume=107 |issue= 5 |pages= 764-9 |year= 1996 |pmid= 8875963 |doi= 10.1111/1523-1747.ep12365805}}

}}

{{refend}}

{{refend}}


== External links ==
⚫

{{med-stub}}

* [https://www.ncbi.nlm.nih.gov/books/NBK1369/ GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex]
⚫

{{Fibrous proteins}}

* [http://www.proteopedia.org/wiki/index.php/Keratins Proteopedia page on keratins]

⚫

{{Cytoskeletal proteins}}

[[Category:Keratins]]

[[Category:Keratins]]


⚫

{{Gene-17-stub}}

Latest revision as of 20:26, 29 January 2023

KRT14
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKRT14, CK14, EBS3, EBS4, K14, NFJ, keratin 14, EBS1D, EBS1, EBS1B, EBS1A, EBS1C
External IDsOMIM: 148066; MGI: 96688; HomoloGene: 110439; GeneCards: KRT14; OMA:KRT14 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

3861

16664

Ensembl

ENSG00000186847

ENSMUSG00000045545

UniProt

P02533

Q61781

RefSeq (mRNA)

NM_000526

NM_016958
NM_001313956
NM_001313957

RefSeq (protein)

NP_000517

NP_001300885
NP_001300886
NP_058654

Location (UCSC)Chr 17: 41.58 – 41.59 MbChr 11: 100.09 – 100.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Keratin 14 is a member of the type I keratin family of intermediate filament proteins. Keratin 14 was the first type I keratin sequence determined.[5] Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the KRT14 gene.[6][7][8]

Keratin 14 is usually found as a heterodimer with type II keratin 5 and form the cytoskeletonofepithelial cells.

Pathology[edit]

Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex[9] and dermatopathia pigmentosa reticularis, both of which are autosomal dominant mutations.[10]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000186847 – Ensembl, May 2017
  • ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045545 – Ensembl, May 2017
  • ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  • ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  • ^ Hanukoglu I, Fuchs E (November 1982). "The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins". Cell. 31 (1): 243–52. doi:10.1016/0092-8674(82)90424-X. PMID 6186381. S2CID 35796315.
  • ^ Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E (September 1991). "Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses". Cell. 66 (6): 1301–11. doi:10.1016/0092-8674(91)90051-Y. PMID 1717157. S2CID 11965913.
  • ^ Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, et al. (July 2006). "New consensus nomenclature for mammalian keratins". The Journal of Cell Biology. 174 (2): 169–74. doi:10.1083/jcb.200603161. PMC 2064177. PMID 16831889.
  • ^ "Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)".
  • ^ Bardhan A, Bruckner-Tuderman L, Chapple IL, Fine JD, Harper N, Has C, et al. (September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. PMID 32973163. S2CID 221861310.
  • ^ Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, et al. (October 2006). "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14". American Journal of Human Genetics. 79 (4): 724–30. doi:10.1086/507792. PMC 1592572. PMID 16960809.

    • Further reading[edit]

  • Rosenberg M, Fuchs E, Le Beau MM, Eddy RL, Shows TB (1991). "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12". Cytogenetics and Cell Genetics. 57 (1): 33–8. doi:10.1159/000133109. PMID 1713141.
  • Bonifas JM, Rothman AL, Epstein EH (November 1991). "Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities". Science. 254 (5035): 1202–5. Bibcode:1991Sci...254.1202B. doi:10.1126/science.1720261. PMID 1720261.
  • Albers K, Fuchs E (August 1987). "The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines". The Journal of Cell Biology. 105 (2): 791–806. doi:10.1083/jcb.105.2.791. PMC 2114764. PMID 2442174.
  • Rosenberg M, RayChaudhury A, Shows TB, Le Beau MM, Fuchs E (February 1988). "A group of type I keratin genes on human chromosome 17: characterization and expression". Molecular and Cellular Biology. 8 (2): 722–36. doi:10.1128/mcb.8.2.722. PMC 363198. PMID 2451124.
  • Marchuk D, McCrohon S, Fuchs E (March 1985). "Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene". Proceedings of the National Academy of Sciences of the United States of America. 82 (6): 1609–13. Bibcode:1985PNAS...82.1609M. doi:10.1073/pnas.82.6.1609. PMC 397321. PMID 2580298.
  • Marchuk D, McCrohon S, Fuchs E (December 1984). "Remarkable conservation of structure among intermediate filament genes". Cell. 39 (3 Pt 2): 491–8. doi:10.1016/0092-8674(84)90456-2. PMID 6210150. S2CID 32897738.
  • Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, et al. (November 1993). "Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function". Nature Genetics. 5 (3): 294–300. doi:10.1038/ng1193-294. PMID 7506097. S2CID 155219.
  • Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH (November 1993). "A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375". Human Molecular Genetics. 2 (11): 1971–2. doi:10.1093/hmg/2.11.1971. PMID 7506606.
  • Chan Y, Anton-Lamprecht I, Yu QC, Jäckel A, Zabel B, Ernst JP, Fuchs E (November 1994). "A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein". Genes & Development. 8 (21): 2574–87. doi:10.1101/gad.8.21.2574. PMID 7525408.
  • Yamanishi K, Matsuki M, Konishi K, Yasuno H (July 1994). "A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex". Human Molecular Genetics. 3 (7): 1171–2. doi:10.1093/hmg/3.7.1171. PMID 7526926.
  • Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M (April 1993). "A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex". Nature Genetics. 3 (4): 327–32. doi:10.1038/ng0493-327. PMID 7526933. S2CID 20287067.
  • Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH (October 1995). "Keratin 14 gene mutations in patients with epidermolysis bullosa simplex". The Journal of Investigative Dermatology. 105 (4): 629–32. doi:10.1111/1523-1747.ep12323846. PMID 7561171.
  • Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, et al. (1993). "A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex". Human Mutation. 2 (1): 37–42. doi:10.1002/humu.1380020107. PMID 7682883. S2CID 8054726.
  • Stephens K, Sybert VP, Wijsman EM, Ehrlich P, Spencer A (August 1993). "A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis". The Journal of Investigative Dermatology. 101 (2): 240–3. doi:10.1111/1523-1747.ep12365079. PMID 7688405.
  • Chan YM, Cheng J, Gedde-Dahl T, Niemi KM, Fuchs E (February 1996). "Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex". The Journal of Investigative Dermatology. 106 (2): 327–34. doi:10.1111/1523-1747.ep12342985. PMID 8601736.
  • Paladini RD, Takahashi K, Bravo NS, Coulombe PA (February 1996). "Onset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: defining a potential role for keratin 16". The Journal of Cell Biology. 132 (3): 381–97. doi:10.1083/jcb.132.3.381. PMC 2120730. PMID 8636216.

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