نتائج البحث - "Rugg, E L"

Relation: info:eu-repo/semantics/altIdentifier/pmid/12890194; info:eu-repo/semantics/altIdentifier/pissn/0007-0963; https://serval.unil.ch/notice/serval:BIB_AFA3664610F7

الاتاحة: https://serval.unil.ch/notice/serval:BIB_AFA3664610F7
https://doi.org/10.1046/j.1365-2133.2003.05493.x

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7

Academic Journal

Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex

المؤلفون: Huber, M., Floeth, M., Borradori, L., Schacke, H., Rugg, E. L., Lane, E. B., Frenk, E., Hohl, D., Bruckner-Tuderman, L.

المصدر: Journal of Investigative Dermatology, vol. 118, no. 1, pp. 185-92

مصطلحات موضوعية: Autoantigens/*genetics Base Sequence/genetics *Carrier Proteins Cells, Cultured Collagen/*genetics Cytoplasm/physiology *Cytoskeletal Proteins Desmosomes/physiology/ultrastructure Epidermolysis Bullosa Simplex/*genetics/metabolism Fluorescent Antibody Technique *Gene Deletion Genome Humans Infant, Newborn Intermediate Filaments/physiology/ultrastructure Introns/genetics Keratinocytes/metabolism Keratins/physiology/ultrastructure Male *Nerve Tissue Proteins *Non-Fibrillar Collagens Phenotype Protein Structure, Tertiary/genetics RNA, Messenger/genetics/metabolism

Relation: info:eu-repo/semantics/altIdentifier/pmid/11851893; info:eu-repo/semantics/altIdentifier/pissn/0022-202X; https://serval.unil.ch/notice/serval:BIB_B5E2497FBBE3

الاتاحة: https://serval.unil.ch/notice/serval:BIB_B5E2497FBBE3
https://doi.org/10.1046/j.0022-202x.2001.01617.x

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8

Academic Journal

A novel mutation in the keratin 13 gene causing oral white sponge nevus

المؤلفون: Terrinoni A., Rugg E. L., Lane E. B., Melino G., Felix D. H., Munro C. S., McLean W. H. I.

المساهمون: Terrinoni, A, Rugg, El, Lane, Eb, Melino, G, Felix, Dh, Munro, C, Mclean, Whi

مصطلحات موضوعية: K4, K13, mutation, white sponge nevu, Adenine, Adolescent, Asparagine, Chromosome Mapping, Chromosomes, Human, Pair 12, Pair 17, Codon, Epithelium, Exon, Genetic Linkage, Guanine, Hamartoma, Keratin, Leukoplakia, Oral, Male, Mouth Disease, Missense, Protein Structure, Tertiary, Scotland, Serine, Settore BIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/11379896; info:eu-repo/semantics/altIdentifier/wos/WOS:000171026700014; volume:80; issue:3; firstpage:919; lastpage:923; numberofpages:5; journal:JOURNAL OF DENTAL RESEARCH; http://hdl.handle.net/2108/240826; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0035000519

الاتاحة: http://hdl.handle.net/2108/240826
https://doi.org/10.1177/00220345010800031401

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9

Academic Journal

DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex ...

المؤلفون: Rugg, E. L., Baty, D., Shemanko, Carrie S., Magee, G., Polak, S., Bergman, R., Kadar, T., Boxer, M., Falik-Zaccai, T., Borochowitz, Z., Lane, E. B.

مصطلحات موضوعية: Biological science

الاتاحة: https://dx.doi.org/10.11575/prism/35148
https://prism.ucalgary.ca/handle/1880/45207

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10

Academic Journal

A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease

المؤلفون: Batta, K, Rugg, E L, Wilson, N J, West, N, Goodyear, H, Lane, E B, Gratian, M, Dopping-Hepenstal, P, Moss, C, Eady, R A J

المصدر: Batta , K , Rugg , E L , Wilson , N J , West , N , Goodyear , H , Lane , E B , Gratian , M , Dopping-Hepenstal , P , Moss , C & Eady , R A J 2000 , ' A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease ' , British Journal of Dermatology , vol. 143 , no. 3 , pp. 621 - 627 . https://doi.org/10.1111/j.1365-2133.2000.03722.x

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/3ff7061f-7c1d-45dc-91ed-fa6386c14b25
https://doi.org/10.1111/j.1365-2133.2000.03722.x
http://www.scopus.com/inward/record.url?scp=0033800831&partnerID=8YFLogxK

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11

Academic Journal

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex

المؤلفون: Rugg, E. L., Rachet-Prehu, M. O., Rochat, A., Barrandon, Y., Goossens, M., Lane, E. B., Hovnanian, A.

المصدر: European Journal of Human Genetics, vol. 7, no. 3, pp. 293-300

مصطلحات موضوعية: Alternative Splicing Amino Acid Sequence Animals Binding Sites Epidermolysis Bullosa Simplex/*genetics Female *Frameshift Mutation Genetic Screening Humans Keratin-14 Keratins/*genetics Male Mice Molecular Sequence Data *Mutation Pedigree Sequence Deletion Sequence Homology, Amino Acid

Relation: info:eu-repo/semantics/altIdentifier/pmid/10234505; info:eu-repo/semantics/altIdentifier/pissn/1018-4813; https://serval.unil.ch/notice/serval:BIB_E1B1DBECDA49

الاتاحة: https://serval.unil.ch/notice/serval:BIB_E1B1DBECDA49
https://doi.org/10.1038/sj.ejhg.5200292

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12

Academic Journal

LOOP‐DIURETIC INHIBITION OF ADRENALINE‐STIMULATED Cl‐ SECRETION IN A CULTURED EPITHELIUM OF RENAL ORIGIN (MDCK)

المؤلفون: Brown, C. D. A., Rugg, E. L., Simmons, N. L.

المصدر: Quarterly Journal of Experimental Physiology ; volume 71, issue 2, page 183-193 ; ISSN 0144-8757

الاتاحة: http://dx.doi.org/10.1113/expphysiol.1986.sp002977
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1113%2Fexpphysiol.1986.sp002977
https://physoc.onlinelibrary.wiley.com/doi/pdf/10.1113/expphysiol.1986.sp002977

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13

Academic Journal

AN INVESTIGATION OF [3H]BUMETANIDE UPTAKE IN A CULTURED RENAL CELL LINE (MDCK)

المؤلفون: Rugg, E. L., Tivey, D. R., Simmons, N. L.

المصدر: Quarterly Journal of Experimental Physiology ; volume 71, issue 2, page 165-182 ; ISSN 0144-8757

الاتاحة: http://dx.doi.org/10.1113/expphysiol.1986.sp002976
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1113%2Fexpphysiol.1986.sp002976
https://physoc.onlinelibrary.wiley.com/doi/pdf/10.1113/expphysiol.1986.sp002976

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14

Academic Journal

VASOACTIVE INTESTINAL PEPTIDE CONTROL OF RENAL ADENYLATE CYCLASE: IN VITRO STUDIES OF CANINE RENAL MEMBRANES AND CULTURED CANINE RENAL EPITHELIAL (MDCK) CELLS

المؤلفون: Griffiths, N. M., Simmons, N. L., Rugg, E. L.

المصدر: Quarterly Journal of Experimental Physiology ; volume 74, issue 3, page 339-353 ; ISSN 0144-8757

الاتاحة: http://dx.doi.org/10.1113/expphysiol.1989.sp003276
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1113%2Fexpphysiol.1989.sp003276
https://physoc.onlinelibrary.wiley.com/doi/pdf/10.1113/expphysiol.1989.sp003276

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15

Academic Journal

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex

المؤلفون: Smith, F. J., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H.

المصدر: Journal of Investigative Dermatology, vol. 108, no. 2, pp. 220-3

مصطلحات موضوعية: Cysts/*genetics Ectodermal Dysplasia/*genetics Female Hair Diseases/complications/*genetics Humans Keratins/*genetics Male Mutation Nail Diseases/complications Pedigree Phenotype

Relation: info:eu-repo/semantics/altIdentifier/pmid/9008238; info:eu-repo/semantics/altIdentifier/pissn/0022-202X; https://serval.unil.ch/notice/serval:BIB_1B71143072EE

الاتاحة: https://serval.unil.ch/notice/serval:BIB_1B71143072EE
https://doi.org/10.1111/1523-1747.ep12335315

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