-
1
-
-
0023806770
-
Pattern of expression of trichocytic and epithelial cytokeratins in mammalian tissues: II. Concommitant and mutually exclusive synthesis of trichocytic and epithelial cytokeratins in diverse human and bovine tissues (hair follicle, nail bed and matrix, lingual papilla and thymic reticulum)
-
Heid H.W., Moll I., and Franke W.W. Pattern of expression of trichocytic and epithelial cytokeratins in mammalian tissues: II. Concommitant and mutually exclusive synthesis of trichocytic and epithelial cytokeratins in diverse human and bovine tissues (hair follicle, nail bed and matrix, lingual papilla and thymic reticulum). Differentiation 37 (1988) 215-230
-
(1988)
Differentiation
, vol.37
, pp. 215-230
-
-
Heid, H.W.1
Moll, I.2
Franke, W.W.3
-
2
-
-
0023907744
-
Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues: I. Human and bovine hair follicles
-
Heid H.W., Moll I., and Franke W.W. Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues: I. Human and bovine hair follicles. Differentiation 37 (1988) 137-157
-
(1988)
Differentiation
, vol.37
, pp. 137-157
-
-
Heid, H.W.1
Moll, I.2
Franke, W.W.3
-
3
-
-
0023026532
-
The complement of native alpha-keratin polypeptides of hair-forming cells: a subset of eight polypeptides that differ from epithelial cytokeratins
-
Heid H.W., Werner E., and Franke W.W. The complement of native alpha-keratin polypeptides of hair-forming cells: a subset of eight polypeptides that differ from epithelial cytokeratins. Differentiation 32 (1986) 101-119
-
(1986)
Differentiation
, vol.32
, pp. 101-119
-
-
Heid, H.W.1
Werner, E.2
Franke, W.W.3
-
4
-
-
0022870457
-
Acidic and basic hair/nail ("hard") keratins: their colocalization in upper cortical and cuticle cells of the human hair follicle and their relationship to "soft" keratins.
-
Lynch M.H., O'Guin W.M., Hardy C., Mak L., and Sun T.T. Acidic and basic hair/nail ("hard") keratins: their colocalization in upper cortical and cuticle cells of the human hair follicle and their relationship to "soft" keratins. J. Cell Biol. 103 (1986) 2593-2606
-
(1986)
J. Cell Biol.
, vol.103
, pp. 2593-2606
-
-
Lynch, M.H.1
O'Guin, W.M.2
Hardy, C.3
Mak, L.4
Sun, T.T.5
-
5
-
-
21644472656
-
The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain
-
Rogers M.A., Winter H., Langbein L., Bleiler R., and Schweizer J. The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain. Differentiation 72 (2004) 527-540
-
(2004)
Differentiation
, vol.72
, pp. 527-540
-
-
Rogers, M.A.1
Winter, H.2
Langbein, L.3
Bleiler, R.4
Schweizer, J.5
-
6
-
-
15044364200
-
Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13
-
Rogers M.A., Edler L., Winter H., Langbein L., Beckmann I., and Schweizer J. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. J. Invest. Dermatol. 124 (2005) 536-544
-
(2005)
J. Invest. Dermatol.
, vol.124
, pp. 536-544
-
-
Rogers, M.A.1
Edler, L.2
Winter, H.3
Langbein, L.4
Beckmann, I.5
Schweizer, J.6
-
7
-
-
1842471992
-
Comprehensive analysis of keratin gene clusters in humans and rodents
-
Hesse M., Zimek A., Weber K., and Magin T.M. Comprehensive analysis of keratin gene clusters in humans and rodents. Eur. J. Cell Biol. 83 (2004) 19-26
-
(2004)
Eur. J. Cell Biol.
, vol.83
, pp. 19-26
-
-
Hesse, M.1
Zimek, A.2
Weber, K.3
Magin, T.M.4
-
8
-
-
33746097413
-
New consensus nomenclature for mammalian keratins
-
Schweizer J., Bowden P.E., Coulombe P.A., Langbein L., Lane E.B., Magin T.M., Maltais L., Omary M.B., Parry D.A., Rogers M.A., and Wright M.W. New consensus nomenclature for mammalian keratins. J. Cell Biol. 174 (2006) 169-174
-
(2006)
J. Cell Biol.
, vol.174
, pp. 169-174
-
-
Schweizer, J.1
Bowden, P.E.2
Coulombe, P.A.3
Langbein, L.4
Lane, E.B.5
Magin, T.M.6
Maltais, L.7
Omary, M.B.8
Parry, D.A.9
Rogers, M.A.10
Wright, M.W.11
-
9
-
-
0035380463
-
Characterization of a cluster of human high/ultrahigh sulfur keratin associated protein (KAP) genes imbedded in the type I keratin gene domain on chromosome 17q12-21
-
Rogers M.A., Langbein L., Winter H., Ehmann C., Praetzel S., and Schweizer J. Characterization of a cluster of human high/ultrahigh sulfur keratin associated protein (KAP) genes imbedded in the type I keratin gene domain on chromosome 17q12-21. J. Biol. Chem. 276 (2001) 19440-19451
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 19440-19451
-
-
Rogers, M.A.1
Langbein, L.2
Winter, H.3
Ehmann, C.4
Praetzel, S.5
Schweizer, J.6
-
10
-
-
0035860762
-
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
-
Langbein L., Rogers M.A., Winter H., Praetzel S., and Schweizer J. 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. J. Biol. Chem. 276 (2001) 35123-35132
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 35123-35132
-
-
Langbein, L.1
Rogers, M.A.2
Winter, H.3
Praetzel, S.4
Schweizer, J.5
-
11
-
-
0033538528
-
The catalog of human hair keratins: I. Expression of the nine type I members in the hair follicle
-
Langbein L., Rogers M.A., Winter H., Praetzel S., Beckhaus U., Rackwitz H.-R., and Schweizer J. The catalog of human hair keratins: I. Expression of the nine type I members in the hair follicle. J. Biol. Chem. 274 (1999) 19874-19884
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 19874-19884
-
-
Langbein, L.1
Rogers, M.A.2
Winter, H.3
Praetzel, S.4
Beckhaus, U.5
Rackwitz, H.-R.6
Schweizer, J.7
-
12
-
-
0344837423
-
K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle
-
Langbein L., Rogers M.A., Praetzel S., Winter H., and Schweizer J. K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. J. Invest. Dermatol. 120 (2003) 512-522
-
(2003)
J. Invest. Dermatol.
, vol.120
, pp. 512-522
-
-
Langbein, L.1
Rogers, M.A.2
Praetzel, S.3
Winter, H.4
Schweizer, J.5
-
13
-
-
0036096891
-
A novel epithelial keratin, hK6irs1, is expressed differentially in all layers of the inner root sheath, including specialized Huxley cells (Flugelzellen) of the human hair follicle
-
Langbein L., Rogers M.A., Praetzel S., Aoki N., Winter H., and Schweizer J. A novel epithelial keratin, hK6irs1, is expressed differentially in all layers of the inner root sheath, including specialized Huxley cells (Flugelzellen) of the human hair follicle. J. Invest. Dermatol. 118 (2002) 789-799
-
(2002)
J. Invest. Dermatol.
, vol.118
, pp. 789-799
-
-
Langbein, L.1
Rogers, M.A.2
Praetzel, S.3
Aoki, N.4
Winter, H.5
Schweizer, J.6
-
14
-
-
0032457223
-
A novel human type II cytokeratin, K6hf, specifically expressed in the companion layer of the hair follicle
-
Winter H., Langbein L., Praetzel S., Jacobs M., Rogers M.A., Leigh I.M., Tidman N., and Schweizer J. A novel human type II cytokeratin, K6hf, specifically expressed in the companion layer of the hair follicle. J. Invest. Dermatol. 111 (1998) 955-962
-
(1998)
J. Invest. Dermatol.
, vol.111
, pp. 955-962
-
-
Winter, H.1
Langbein, L.2
Praetzel, S.3
Jacobs, M.4
Rogers, M.A.5
Leigh, I.M.6
Tidman, N.7
Schweizer, J.8
-
15
-
-
33750051685
-
K25 (k25irs1), k26 (k25irs2), k27 (k25irs3), and k28 (k25irs4) represent the type I inner root sheath keratins of the human hair follicle
-
Langbein L., Rogers M.A., Praetzel-Wunder S., Helmke B., Schirmacher P., and Schweizer J. K25 (k25irs1), k26 (k25irs2), k27 (k25irs3), and k28 (k25irs4) represent the type I inner root sheath keratins of the human hair follicle. J. Invest. Dermatol. 126 (2006) 2377-2386
-
(2006)
J. Invest. Dermatol.
, vol.126
, pp. 2377-2386
-
-
Langbein, L.1
Rogers, M.A.2
Praetzel-Wunder, S.3
Helmke, B.4
Schirmacher, P.5
Schweizer, J.6
-
16
-
-
0242386916
-
Type II epithelial keratin 6hf (K6hf) is expressed in the companion layer, matrix, and medulla in anagen-stage hair follicles
-
Wang Z., Wong P., Langbein L., Schweizer J., and Coulombe P.A. Type II epithelial keratin 6hf (K6hf) is expressed in the companion layer, matrix, and medulla in anagen-stage hair follicles. J. Invest. Dermatol. 121 (2003) 1276-1282
-
(2003)
J. Invest. Dermatol.
, vol.121
, pp. 1276-1282
-
-
Wang, Z.1
Wong, P.2
Langbein, L.3
Schweizer, J.4
Coulombe, P.A.5
-
17
-
-
0038326541
-
The molecular genetics of keratin disorders
-
Smith F.J.D. The molecular genetics of keratin disorders. Am. J. Clin. Dermatol. 4 (2003) 347-364
-
(2003)
Am. J. Clin. Dermatol.
, vol.4
, pp. 347-364
-
-
Smith, F.J.D.1
-
18
-
-
0037282536
-
Functional complexity of intermediate filament cytoskeletons: from structure to assembly to gene ablation
-
Herrmann H., Hesse M., Reichenzeller M., Aebi U., and Magin T.M. Functional complexity of intermediate filament cytoskeletons: from structure to assembly to gene ablation. Int. Rev. Cytol. 223 (2003) 83-175
-
(2003)
Int. Rev. Cytol.
, vol.223
, pp. 83-175
-
-
Herrmann, H.1
Hesse, M.2
Reichenzeller, M.3
Aebi, U.4
Magin, T.M.5
-
19
-
-
0345712804
-
A rare nodose condition of the hair
-
Smith W.G. A rare nodose condition of the hair. Brit. Med. J. 2 (1879) 291-296
-
(1879)
Brit. Med. J.
, vol.2
, pp. 291-296
-
-
Smith, W.G.1
-
20
-
-
0009678502
-
Zur Kenntnis der Monilethrix
-
Heydt G.E. Zur Kenntnis der Monilethrix. Arch. Klin. Exp. Derm. 217 (1963) 15-29
-
(1963)
Arch. Klin. Exp. Derm.
, vol.217
, pp. 15-29
-
-
Heydt, G.E.1
-
21
-
-
16844383908
-
Keratins of the human hair follicle
-
Langbein L., and Schweizer J. Keratins of the human hair follicle. Int. Rev. Cytol. 243 (2005) 1-78
-
(2005)
Int. Rev. Cytol.
, vol.243
, pp. 1-78
-
-
Langbein, L.1
Schweizer, J.2
-
22
-
-
0028810448
-
A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
-
Healy E., Holmes S.C., Belgaid C.E., Stephenson A.M., McLean W.H.I., Rees J., and Munro C.S. A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13. Hum. Mol. Genet. 4 (1995) 2399-2402
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 2399-2402
-
-
Healy, E.1
Holmes, S.C.2
Belgaid, C.E.3
Stephenson, A.M.4
McLean, W.H.I.5
Rees, J.6
Munro, C.S.7
-
23
-
-
0030010193
-
Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-13
-
Stevens H.P., Keisell D.P., Bryant S.P., Bishop D.T., Dawber R.P.R., Spurr N.K., and Leigh I.M. Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-13. J. Invest. Dermatol. 106 (1996) 795-805
-
(1996)
J. Invest. Dermatol.
, vol.106
, pp. 795-805
-
-
Stevens, H.P.1
Keisell, D.P.2
Bryant, S.P.3
Bishop, D.T.4
Dawber, R.P.R.5
Spurr, N.K.6
Leigh, I.M.7
-
24
-
-
0030747138
-
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
-
Winter H., Rogers M.A., Langbein L., Stevens H.P., Leigh I.M., Labreze C., Roul S., Taieb A., Krieg T., and Schweizer J. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat. Genet. 16 (1997) 372-374
-
(1997)
Nat. Genet.
, vol.16
, pp. 372-374
-
-
Winter, H.1
Rogers, M.A.2
Langbein, L.3
Stevens, H.P.4
Leigh, I.M.5
Labreze, C.6
Roul, S.7
Taieb, A.8
Krieg, T.9
Schweizer, J.10
-
25
-
-
0031468356
-
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
-
Winter H., Rogers M.A., Gebhardt M., Wollina U., Boxall L., Chitayat D., Babul-Hirji R., Stevens H.P., Zlotogorski A., and Schweizer J. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. Hum. Genet. 101 (1997) 165-169
-
(1997)
Hum. Genet.
, vol.101
, pp. 165-169
-
-
Winter, H.1
Rogers, M.A.2
Gebhardt, M.3
Wollina, U.4
Boxall, L.5
Chitayat, D.6
Babul-Hirji, R.7
Stevens, H.P.8
Zlotogorski, A.9
Schweizer, J.10
-
26
-
-
0000406655
-
Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain
-
Rogers M.A., Winter H., Langbein L., Wolf C., and Schweizer J. Characterization of a 300 kbp region of human DNA containing the type II hair keratin gene domain. J. Invest. Dermatol. 114 (2000) 464-472
-
(2000)
J. Invest. Dermatol.
, vol.114
, pp. 464-472
-
-
Rogers, M.A.1
Winter, H.2
Langbein, L.3
Wolf, C.4
Schweizer, J.5
-
27
-
-
25144471458
-
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
-
van Steensel M.A., Steijlen P.M., Bladergroen R.S., Vermeer M., and van Geel M. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J. Med. Genet. 42 (2005) e19
-
(2005)
J. Med. Genet.
, vol.42
-
-
van Steensel, M.A.1
Steijlen, P.M.2
Bladergroen, R.S.3
Vermeer, M.4
van Geel, M.5
-
28
-
-
0031832125
-
A variable monilethrix phenotype associated with a novel mutation, glu402lys, in the helix termination motif of the type II hair keratin hHb1
-
Winter H., Labreze C., Chapalain V., Surleve-Bazeille J., Mercier M., Rogers M.A., Taieb A., and Schweizer J. A variable monilethrix phenotype associated with a novel mutation, glu402lys, in the helix termination motif of the type II hair keratin hHb1. J. Invest. Dermatol. 111 (1998) 169-172
-
(1998)
J. Invest. Dermatol.
, vol.111
, pp. 169-172
-
-
Winter, H.1
Labreze, C.2
Chapalain, V.3
Surleve-Bazeille, J.4
Mercier, M.5
Rogers, M.A.6
Taieb, A.7
Schweizer, J.8
-
29
-
-
0346339843
-
De novo mutations in monilethrix
-
Horev L., Djabali K., Green J., Sinclair R., Martinez-Mir A., Ingber A., Christiano A.M., and Zlotogorski A. De novo mutations in monilethrix. Exp. Dermatol. 12 (2003) 882-885
-
(2003)
Exp. Dermatol.
, vol.12
, pp. 882-885
-
-
Horev, L.1
Djabali, K.2
Green, J.3
Sinclair, R.4
Martinez-Mir, A.5
Ingber, A.6
Christiano, A.M.7
Zlotogorski, A.8
-
30
-
-
0014497527
-
Autoradiographic studies of hair growth in various dermatoses: investigation of a possible circadian rhythm in human hair growth
-
Comaish S. Autoradiographic studies of hair growth in various dermatoses: investigation of a possible circadian rhythm in human hair growth. Br. J. Dermatol. 81 (1969) 283-288
-
(1969)
Br. J. Dermatol.
, vol.81
, pp. 283-288
-
-
Comaish, S.1
-
31
-
-
0012920802
-
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype
-
Korge B.P., Hamm H., Jury C.S., Traupe H., Irvine A.D., Healy E., Birch-Machin M.A., Rees J.L., Messenger A.G., Holmes S.C., Parry D.A.D., and Munro C.S. Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. J. Invest. Dermatol. 113 (1999) 607-612
-
(1999)
J. Invest. Dermatol.
, vol.113
, pp. 607-612
-
-
Korge, B.P.1
Hamm, H.2
Jury, C.S.3
Traupe, H.4
Irvine, A.D.5
Healy, E.6
Birch-Machin, M.A.7
Rees, J.L.8
Messenger, A.G.9
Holmes, S.C.10
Parry, D.A.D.11
Munro, C.S.12
-
32
-
-
0029988216
-
Evidence for genetic heterogeneity in monilethrix
-
Richard G., Itin P., Lin J.P., Bon A., and Bale S.J. Evidence for genetic heterogeneity in monilethrix. J. Invest. Dermatol. 107 (1996) 812-814
-
(1996)
J. Invest. Dermatol.
, vol.107
, pp. 812-814
-
-
Richard, G.1
Itin, P.2
Lin, J.P.3
Bon, A.4
Bale, S.J.5
-
33
-
-
10544245659
-
Erstmaliger hinweis auf das vorkommen eines monohybrid-rezessiven erbgangs bei monilethrix
-
Hanhart E. Erstmaliger hinweis auf das vorkommen eines monohybrid-rezessiven erbgangs bei monilethrix. Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg 30 (1955) 1-11
-
(1955)
Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg
, vol.30
, pp. 1-11
-
-
Hanhart, E.1
-
34
-
-
0002063610
-
An investigation of monilethrix
-
Baker H. An investigation of monilethrix. Br. J. Dermatol. 74 (1962) 24-30
-
(1962)
Br. J. Dermatol.
, vol.74
, pp. 24-30
-
-
Baker, H.1
-
35
-
-
33644863162
-
Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle
-
Bazzi H., Getz A., Mahoney M.G., Ishida-Yamamoto A., Langbein L., Wahl III J.K., and Christiano A.M. Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation 74 (2006) 129-140
-
(2006)
Differentiation
, vol.74
, pp. 129-140
-
-
Bazzi, H.1
Getz, A.2
Mahoney, M.G.3
Ishida-Yamamoto, A.4
Langbein, L.5
Wahl III, J.K.6
Christiano, A.M.7
-
36
-
-
33745564261
-
More than one gene involved in monilethrix: intracellular but also extracellular players
-
Schweizer J. More than one gene involved in monilethrix: intracellular but also extracellular players. J. Invest. Dermatol. 126 (2006) 1216-1219
-
(2006)
J. Invest. Dermatol.
, vol.126
, pp. 1216-1219
-
-
Schweizer, J.1
-
37
-
-
33645121546
-
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
-
Naeem M., Wajid M., Lee K., Leal S.M., and Ahmad W. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. J. Med. Genet. 43 (2006) 274-279
-
(2006)
J. Med. Genet.
, vol.43
, pp. 274-279
-
-
Naeem, M.1
Wajid, M.2
Lee, K.3
Leal, S.M.4
Ahmad, W.5
-
38
-
-
0029810901
-
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation
-
Uttam J., Hutton E., Coulombe P.A., Anton-Lamprecht I., Yu Q.-C., Gedde-Dahl Jr. T., Fine J.-D., and Fuchs E. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc. Natl. Acad. Sci. 93 (1996) 9079-9084
-
(1996)
Proc. Natl. Acad. Sci.
, vol.93
, pp. 9079-9084
-
-
Uttam, J.1
Hutton, E.2
Coulombe, P.A.3
Anton-Lamprecht, I.4
Yu, Q.-C.5
Gedde-Dahl Jr., T.6
Fine, J.-D.7
Fuchs, E.8
-
39
-
-
0030890858
-
A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation
-
Irvine A.D., McKenna K.E., Jenkinson H., and Hughs A.E. A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. J. Invest. Dermatol. 108 (1997) 809-810
-
(1997)
J. Invest. Dermatol.
, vol.108
, pp. 809-810
-
-
Irvine, A.D.1
McKenna, K.E.2
Jenkinson, H.3
Hughs, A.E.4
-
40
-
-
33749035448
-
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14
-
Lugassy J., Itin P., Ishida-Yamamoto A., Holland K., Huson S., Geiger D., Hennies H.C., Indelman M., Bercovich D., Uitto J., Bergman R., McGrath J.A., Richard G., and Sprecher E. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am. J. Hum. Genet. 79 (2006) 724-730
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 724-730
-
-
Lugassy, J.1
Itin, P.2
Ishida-Yamamoto, A.3
Holland, K.4
Huson, S.5
Geiger, D.6
Hennies, H.C.7
Indelman, M.8
Bercovich, D.9
Uitto, J.10
Bergman, R.11
McGrath, J.A.12
Richard, G.13
Sprecher, E.14
-
41
-
-
0028556413
-
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma
-
Kimonis V., DiGiovanna J.J., Yang J.-M., Doyle S.Z., Bale S.J., and Compton J.G. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J. Invest. Dermatol. 103 (1994) 764-769
-
(1994)
J. Invest. Dermatol.
, vol.103
, pp. 764-769
-
-
Kimonis, V.1
DiGiovanna, J.J.2
Yang, J.-M.3
Doyle, S.Z.4
Bale, S.J.5
Compton, J.G.6
-
42
-
-
0027987929
-
Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins
-
Kouklis P.D., Hutton E., and Fuchs E. Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins. J. Cell Biol. 127 (1994) 1049-1060
-
(1994)
J. Cell Biol.
, vol.127
, pp. 1049-1060
-
-
Kouklis, P.D.1
Hutton, E.2
Fuchs, E.3
-
43
-
-
0345700356
-
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5
-
Sprecher E., Yosipovitch G., Bergman R., Ciubutaro D., Indelman M., Pfendner E., Goh L.C., Miller C.J., Uitto J., and Richard G. Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. J. Invest. Dermatol. 120 (2003) 623-626
-
(2003)
J. Invest. Dermatol.
, vol.120
, pp. 623-626
-
-
Sprecher, E.1
Yosipovitch, G.2
Bergman, R.3
Ciubutaro, D.4
Indelman, M.5
Pfendner, E.6
Goh, L.C.7
Miller, C.J.8
Uitto, J.9
Richard, G.10
-
44
-
-
0035047665
-
Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix
-
Sprecher E., Ishida-Yamamoto A., Becker O.M., Marekov L., Miller C.J., Steinert P.M., Neldner K., and Richard G. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J. Invest. Dermatol. 116 (2001) 511-519
-
(2001)
J. Invest. Dermatol.
, vol.116
, pp. 511-519
-
-
Sprecher, E.1
Ishida-Yamamoto, A.2
Becker, O.M.3
Marekov, L.4
Miller, C.J.5
Steinert, P.M.6
Neldner, K.7
Richard, G.8
-
45
-
-
0036093823
-
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma
-
Whittock N.V., Smith F.J., Wan H., Mallipeddi R., Griffiths W.A., Dopping-Hepenstal P., Ashton G.H., Eady R.A., McLean W.H., and McGrath J.A. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J. Invest. Dermatol. 118 (2002) 838-844
-
(2002)
J. Invest. Dermatol.
, vol.118
, pp. 838-844
-
-
Whittock, N.V.1
Smith, F.J.2
Wan, H.3
Mallipeddi, R.4
Griffiths, W.A.5
Dopping-Hepenstal, P.6
Ashton, G.H.7
Eady, R.A.8
McLean, W.H.9
McGrath, J.A.10
-
46
-
-
0026601521
-
Extensive size polymorphism of the human keratin 10 chain residues in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops
-
Korge B.P., Gan S.-Q., McBride W., Mischke D., and Steinert P.M. Extensive size polymorphism of the human keratin 10 chain residues in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops. Proc. Natl. Acad. Sci. 89 (1992) 910-914
-
(1992)
Proc. Natl. Acad. Sci.
, vol.89
, pp. 910-914
-
-
Korge, B.P.1
Gan, S.-Q.2
McBride, W.3
Mischke, D.4
Steinert, P.M.5
-
47
-
-
0032478181
-
A highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelope through isopeptide crosslinking by transglutaminases
-
Candi E., Tarcsa E., DiGiovanna J.J., Compton J.G., Elias P.M., Marekov L.N., and Steinert P.M. A highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelope through isopeptide crosslinking by transglutaminases. Proc. Natl. Acad. Sci. U. S. A. 95 (1998) 2067-2072
-
(1998)
Proc. Natl. Acad. Sci. U. S. A.
, vol.95
, pp. 2067-2072
-
-
Candi, E.1
Tarcsa, E.2
DiGiovanna, J.J.3
Compton, J.G.4
Elias, P.M.5
Marekov, L.N.6
Steinert, P.M.7
-
48
-
-
18744373599
-
A role for the 1A and L1 rod domain segments in head domain organization and function of intermediate filaments: structural analysis of trichocyte keratin
-
Parry D.A., Marekov L.N., Steinert P.M., and Smith T.A. A role for the 1A and L1 rod domain segments in head domain organization and function of intermediate filaments: structural analysis of trichocyte keratin. J. Struct. Biol. 137 (2002) 97-108
-
(2002)
J. Struct. Biol.
, vol.137
, pp. 97-108
-
-
Parry, D.A.1
Marekov, L.N.2
Steinert, P.M.3
Smith, T.A.4
-
49
-
-
4544320330
-
Expression of hair keratins in the adult human nail unit: an immunohistochemical analysis of the onchyogenesis in the proximal nail fold, matrix and nail bed
-
Perrin C., Langbein L., and Schweizer J. Expression of hair keratins in the adult human nail unit: an immunohistochemical analysis of the onchyogenesis in the proximal nail fold, matrix and nail bed. Brit. J. Dermatol. 151 (2004) 362-371
-
(2004)
Brit. J. Dermatol.
, vol.151
, pp. 362-371
-
-
Perrin, C.1
Langbein, L.2
Schweizer, J.3
-
50
-
-
33750920309
-
Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2
-
Naeem M., Jelani M., Lee K., Ali G., Chishti M.S., Wali A., Gul A., John P., Hassan M.J., Leal S.M., and Ahmad W. Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2. Br. J. Dermatol. 155 (2006) 1184-1190
-
(2006)
Br. J. Dermatol.
, vol.155
, pp. 1184-1190
-
-
Naeem, M.1
Jelani, M.2
Lee, K.3
Ali, G.4
Chishti, M.S.5
Wali, A.6
Gul, A.7
John, P.8
Hassan, M.J.9
Leal, S.M.10
Ahmad, W.11
-
51
-
-
0141956488
-
Alopecia in a novel mouse model RCO3 is caused by mK6irs1 deficiency
-
Peters T., Sedlmeier R., Bussow H., Runkel F., Luers G.H., Korthaus D., Fuchs H., Hrabe d.A., Stumm G., Russ A.P., Porter R.M., Augustin M., and Franz T. Alopecia in a novel mouse model RCO3 is caused by mK6irs1 deficiency. J. Invest. Dermatol. 121 (2003) 674-680
-
(2003)
J. Invest. Dermatol.
, vol.121
, pp. 674-680
-
-
Peters, T.1
Sedlmeier, R.2
Bussow, H.3
Runkel, F.4
Luers, G.H.5
Korthaus, D.6
Fuchs, H.7
Hrabe, d.A.8
Stumm, G.9
Russ, A.P.10
Porter, R.M.11
Augustin, M.12
Franz, T.13
-
52
-
-
0035095087
-
A novel type II cytokeratin, mK6irs, is expressed in the Huxley and Henle layers of the mouse inner root sheath
-
Aoki N., Sawada S., Rogers M.A., Schweizer J., Shimomura Y., Tsujimoto T., Ito K., and Ito M. A novel type II cytokeratin, mK6irs, is expressed in the Huxley and Henle layers of the mouse inner root sheath. J. Invest. Dermatol. 116 (2001) 359-365
-
(2001)
J. Invest. Dermatol.
, vol.116
, pp. 359-365
-
-
Aoki, N.1
Sawada, S.2
Rogers, M.A.3
Schweizer, J.4
Shimomura, Y.5
Tsujimoto, T.6
Ito, K.7
Ito, M.8
-
53
-
-
10744230582
-
A small deletion hotspot in the type II keratin gene mK6irs1/Krt2-6g on mouse chromosome 15, a candidate for causing the wavy hair of the caracul (Ca) mutation
-
Kikkawa Y., Oyama A., Ishii R., Miura I., Amano T., Ishii Y., Yoshikawa Y., Masuya H., Wakana S., Shiroishi T., Taya C., and Yonekawa H. A small deletion hotspot in the type II keratin gene mK6irs1/Krt2-6g on mouse chromosome 15, a candidate for causing the wavy hair of the caracul (Ca) mutation. Genetics 165 (2003) 721-733
-
(2003)
Genetics
, vol.165
, pp. 721-733
-
-
Kikkawa, Y.1
Oyama, A.2
Ishii, R.3
Miura, I.4
Amano, T.5
Ishii, Y.6
Yoshikawa, Y.7
Masuya, H.8
Wakana, S.9
Shiroishi, T.10
Taya, C.11
Yonekawa, H.12
-
54
-
-
84960596793
-
Caracul, a dominant mutation
-
Dunn L.C. Caracul, a dominant mutation. J. Heredity 28 (1937) 334
-
(1937)
J. Heredity
, vol.28
, pp. 334
-
-
Dunn, L.C.1
-
55
-
-
0035788874
-
Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans
-
Porter R.M., Corden L.D., Lunny D.P., Smith F.J., Lane E.B., and McLean W.H. Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans. Br. J. Dermatol. 145 (2001) 558-568
-
(2001)
Br. J. Dermatol.
, vol.145
, pp. 558-568
-
-
Porter, R.M.1
Corden, L.D.2
Lunny, D.P.3
Smith, F.J.4
Lane, E.B.5
McLean, W.H.6
-
59
-
-
0036220262
-
Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study
-
Chapalain V., Winter H., Langbein L., Le Roy J.M., Labreze C., Nikolic M., Schweizer J., and Taieb A. Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study. Arch. Dermatol. 138 (2002) 501-506
-
(2002)
Arch. Dermatol.
, vol.138
, pp. 501-506
-
-
Chapalain, V.1
Winter, H.2
Langbein, L.3
Le Roy, J.M.4
Labreze, C.5
Nikolic, M.6
Schweizer, J.7
Taieb, A.8
-
60
-
-
11144357354
-
An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae
-
Winter H., Schissel D., Parry D.A., Smith T.A., Liovic M., Birgitte L.E., Edler L., Langbein L., Jave-Suarez L.F., Rogers M.A., Wilde J., Peters G., and Schweizer J. An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae. J. Invest. Dermatol. 122 (2004) 652-657
-
(2004)
J. Invest. Dermatol.
, vol.122
, pp. 652-657
-
-
Winter, H.1
Schissel, D.2
Parry, D.A.3
Smith, T.A.4
Liovic, M.5
Birgitte, L.E.6
Edler, L.7
Langbein, L.8
Jave-Suarez, L.F.9
Rogers, M.A.10
Wilde, J.11
Peters, G.12
Schweizer, J.13
-
62
-
-
0032086003
-
The causes and treatment of pseudofolliculitis barbae
-
Crutchfield III C.E. The causes and treatment of pseudofolliculitis barbae. Cutis 61 (1998) 351-356
-
(1998)
Cutis
, vol.61
, pp. 351-356
-
-
Crutchfield III, C.E.1
-
63
-
-
0034089717
-
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix
-
Winter H., Vabres P., Larregue M., Rogers M.A., and Schweizer J. A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. Hum. Hered. 50 (2000) 322-324
-
(2000)
Hum. Hered.
, vol.50
, pp. 322-324
-
-
Winter, H.1
Vabres, P.2
Larregue, M.3
Rogers, M.A.4
Schweizer, J.5
-
64
-
-
0032997217
-
The essence of SNPs
-
Brookes A.J. The essence of SNPs. Gene 234 (1999) 177-186
-
(1999)
Gene
, vol.234
, pp. 177-186
-
-
Brookes, A.J.1
-
66
-
-
0027522592
-
Pseudofolliculitis barbae associated with an unusual hair whorl
-
Ross E.V., Evans L.A., and Yeager J.K. Pseudofolliculitis barbae associated with an unusual hair whorl. Cutis 51 (1993) 107-108
-
(1993)
Cutis
, vol.51
, pp. 107-108
-
-
Ross, E.V.1
Evans, L.A.2
Yeager, J.K.3
-
67
-
-
0037640955
-
Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix
-
Muramatsu S., Kimura T., Ueki R., Tsuboi R., Ikeda S., and Ogawa H. Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. Dermatology 206 (2003) 338-340
-
(2003)
Dermatology
, vol.206
, pp. 338-340
-
-
Muramatsu, S.1
Kimura, T.2
Ueki, R.3
Tsuboi, R.4
Ikeda, S.5
Ogawa, H.6
|