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1Academic Journal
المؤلفون: Laura Sercia, Oriana Romano, Grazia Marini, Elena Enzo, Mattia Forcato, Laura De Rosa, Michele De Luca
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 3, Pp 101311- (2024)
مصطلحات موضوعية: lamellar ichthyosis, gene therapy, TGM1, CRISPR-Cas9, primary human keratinocytes, 3D skin equivalent, Genetics, QH426-470, Cytology, QH573-671
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Gulhan Gurel, Muhsin Elmas, Basak Gogus
المصدر: Journal of Biochemical and Clinical Genetics, Vol 5, Iss 2, Pp 043-047 (2022)
مصطلحات موضوعية: congenital, ichthyosis, tgm1, whole exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Karim, Noreen, Phinney, Brett S, Salemi, Michelle, Wu, Pei-Wen, Naeem, Muhammad, Rice, Robert H
المصدر: Experimental dermatology. 28(5)
مصطلحات موضوعية: Epidermis, Cell Membrane, Keratinocytes, Hair, Nails, Skin, Humans, Ichthyosis, Lamellar, Transglutaminases, Lipids, Proline, Proteins, Cytoskeletal Proteins, Membrane Proteins, Proteome, Proteomics, Female, Male, Keratins, TGM1, keratin, keratinocyte, loricrin, proteomics, Clinical Sciences, Dermatology & Venereal Diseases
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8qz9s5x7
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4Academic Journal
المصدر: Pharmacogenomics and Personalized Medicine, Vol Volume 15, Pp 583-588 (2022)
مصطلحات موضوعية: autosomal-recessive congenital ichthyosis, tgm1, lamellar ichthyosis, whole-exome sequencing, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
Relation: https://www.dovepress.com/compound-heterozygous-mutations-in-tgm1-causing-a-severe-form-of-lamel-peer-reviewed-fulltext-article-PGPM; https://doaj.org/toc/1178-7066
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5Academic Journal
المؤلفون: Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch, Judith Fischer
المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: Ichthyosis, TGM1, NIPAL4, CYP4F22, CERS3, ABCA12, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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6Academic Journal
المؤلفون: Abdulhadi Almazroea, Ambreen Ijaz, Abdul Aziz, Muhammad Mushtaq Yasinzai, Rafiullah Rafiullah, Fazal Ur Rehman, Shakeela Daud, Rozeena Shaikh, Muhammad Ayub, Abdul Wali
المصدر: Medicina; Volume 59; Issue 1; Pages: 103
مصطلحات موضوعية: lamellar ichthyosis, TGM1, nonsense mutation, in silico analysis
وصف الملف: application/pdf
Relation: Genetics; https://dx.doi.org/10.3390/medicina59010103
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7Academic Journal
المؤلفون: Fozia Fozia, Rubina Nazli, Sher Alam Khan, Ahmed Bari, Abdul Nasir, Riaz Ullah, Hafiz Majid Mahmood, Muhammad Sohaib, Abdulrahman Alobaid, Siddique A. Ansari, Sulman Basit, Saadullah Khan
المصدر: Genes; Volume 12; Issue 3; Pages: 373
مصطلحات موضوعية: ichthyosis, whole exome sequencing, splice site variant, TGM1 and SPINK5
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Animal Genetics and Genomics; https://dx.doi.org/10.3390/genes12030373
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8Academic Journal
المؤلفون: N. Vasserman N., G. Bayazutdinova M., S. Braslavskaya I., N. Ryadninskaya V., A. Chukhrova L., A. Polyakov V., Н. Вассерман Н., Г. Баязутдинова М., С. Браславская И., Н. Ряднинская В., А. Чухрова Л., А. Поляков В.
المصدر: Medical Genetics; Том 14, № 11 (2015); 23-28 ; Медицинская генетика; Том 14, № 11 (2015); 23-28 ; 2073-7998
مصطلحات موضوعية: аутосомно-рецессивный врожденный ихтиоз, ген ALOX12B, ген TGM1, мутация, autosomal recessive congenital ichthyosis, ALOX12B gene, TGM1 gene, mutation
وصف الملف: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/67/15; Basel-Vanagaite L., Attia R., Ishida-Yamamoto A., Rainshtein L., Ben Amitai D., Lurie R., Pasmanik-Chor M., Indelman M., Zvulunov A., Saban S., Magal N., Sprecher E., Shohat M. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase // Am. J. Hum. Genet. - 2007. - Vol. 80, № 3. - P. 467-477.; Dahlqvist J., Klar J., Hausser I., Anton-Lamprecht I., Pigg M.H., Gedde-Dahl T., Gаnemo A., Vahlquist A., Dahl N. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis // J. Med. Genet. - 2007. - Vol. 44, № 10. - P. 615-620.; Eckl K.M., Krieg P., Kuster W., Traupe H., Andre F., Wittstruck N., Furstenberger G., Hennies H.C. Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis // Hum. Mutation. - 2005. - Vol. 26, № 4. - P. 351-361.; Fischer J. Autosomal recessive congenital ichthyosis // J. Invest. Dermatol. - 2009, № 6. - Vol. 129. - P. 1319-1321.; Huber M., Rettler I., Bernasconi K., Frenk E., Lavrijsen S.P., Ponec M., Bon A., Lautenschlager S., Schorderet D.F., Hohl D. Mutations of keratinocyte transglutaminase in lamellar ichthyosis // Science. - 1995. - Vol. 267, № 5197. - P. 525-528.; Jobard F., Lefevre C., Karaduman A., Blanchet-Bardon C., Emre S., Weissenbach J., Ozguc M., Lathrop M., Prud’homme J.F., Fischer J. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in nonbullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1 // Hum. Mol. Genet. - 2002. - Vol. 11, № 1. - P. 107-113.; Kelsell D.P., Norgett E.E., Unsworth H., Teh M.T., Cullup T., Mein C.A., Dopping-Hepenstal P.J., Dale B.A., Tadini G., Fleckman P., Stephens K.G., Sybert V.P., Mallory S.B., North B.V., Witt D.R., Sprecher E., Taylor A.E., Ilchyshyn A., Kennedy C.T., Goodyear H., Moss C., Paige D., Harper J.I., Young B.D., Leigh I.M., Eady R.A., O’Toole E.A. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis // Am. J. Hum. Genet. - 2005. - Vol. 76, № 5. - P. 794-803.; Lefevre C., Audebert S., Jobard F., Bouadjar B., Lakhdar H., Boughdene-Stambouli O., Blanchet-Bardon C., Heilig R., Foglio M., Weissenbach J., Lathrop M., Prud’homme J.F., Fischer J. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 // Hum. Mol. Genet. - 2003. - Vol. 12, № 18. - P. 2369-2378.; Lefevre C., Bouadjar B., Karaduman A., Jobard F., Saker S., Ozguc M., Lathrop M., Prud’homme J.F., Fischer J. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis // Hum. Mol. Genet. - 2004. - Vol. 13, № 20. - P. 2473-2482.; Lefevre C., Bouadjar B., Ferrand V., Tadini G., Megarbane A., Lathrop M., Prud’homme J.F., Fischer J. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3 // Hum. Mol. Genet. - 2006. - Vol. 15, № 5. - P. 767-776.; Oji V., Tadini G., Akiyama M., Blanchet-Bardon C., Bodemer C., Bourrat E., Coudiere P., DiGiovanna J.J., Elias P., Fischer J., Fleckman P., Gina M., Harper J.,Hashimoto T., Hausser I., Hennies H.C., Hohl D., Hovnanian A., Ishida-Yamamoto A., Jacyk W.K., Leachman S., Leigh I., Mazereeuw-Hautier J., Milstone L., Morice-Picard F., Paller A.S., Richard G., Schmuth M., Shimizu H., Sprecher E., Van Steensel M., Taieb A., Toro J.R., Vabres P., Vahlquist A., Williams M., Traupe H. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009 // J. Am. Acad. Dermatol. - 2010. - Vol. 63, № 4. - P. 607-641.; Rodriguez-Pazos L., Ginarte M., Vega A., Toribio J. Autosomal recessive congenital ichthyosis // Actas.Dermosifiliogr. - 2013. - Vol. 104, № 4. - P. 270-284.; Raghunath M., Hennies H.C., Ahvazi B., Vogel M., Reis A., Steinert P.M., Traupe H. Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation // J. Invest. Dermatol. - 2003. - Vol. 120, № 2. - P. 224-228.; Russell L.J., DiGiovanna J.J., Rogers G.R., Steinert P.M., Hashem N., Compton J.G., Bale S.J. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis // Nat. Genet. - 1995. - Vol. 9, № 3. - P. 279-283.; Vahlquist A., Bygum A., Ganemo A., Virtanen M., Hellstrom-Pigg M., Strauss G., Brandrup F., Fischer J. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients // J. Invest. Dermatol. - 2010. - Vol. 130, № 2. - P. 438-443.; Vasserman N.N., Galkina V.A., Makienko O.N., Okuneva E.G., Rudenskaya G.E. Genetic heterogeneity of nonbullous congenital ichthyosiform erythroderma // Europ. J. Hum. Genet. - 2008. - Vol. 16, № 2. - P. 270-271.; https://www.medgen-journal.ru/jour/article/view/67
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9
المؤلفون: Sercia, Laura
مصطلحات موضوعية: Viral vectors, Cellule staminali, Gene therapy, Vettori virali, Lamellar ichthyosis, Terapia genica, Ittiosi lamellare, TGM1, Settore BIO/11 - Biologia Molecolare, Epidermal stem cells
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10Academic Journal
المؤلفون: Mohammad Taghi AKBARI, Mojgan ATAEI-KACHOUI
المصدر: Iranian Journal of Public Health, Vol 44, Iss 7 (2015)
مصطلحات موضوعية: ARCI, Lamellar ichthyosis, TGM1, ALOXE3, Iran, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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11Academic Journal
المؤلفون: Ortega?Recalde, O., Moreno, M. B., Vergara, J. I., Fonseca-Mendoza, Dora Janeth, Rojas, R. F., Mosquera, H., Medina, C. L., Restrepo, Carlos M., Laissue, P.
المصدر: instname:Universidad del Rosario
مصطلحات موضوعية: Adult, Amplicon, Article, Autosomal recessive congenital ichthyosis, Case report, Exon skipping, Female, Gene, Gene mutation, Gene rearrangement, Genetic counseling, Genotype, Genotype phenotype correlation, Human, Ichthyosis, Intron, Intron retention, Phenotype, Physical examination, Priority journal, Single nucleotide polymorphism, Stop codon, Tgm1 gene, Congenital ichthyosiform erythroderma, Genetic predisposition, Genetics, Mutation, Recessive gene, Rna splicing, Protein glutamine gamma glutamyltransferase
وصف الملف: application/pdf
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12
المؤلفون: Nils, Landegren, Norito, Ishii, Maribel, Aranda-Guillén, Hörður Ingi, Gunnarsson, Fabian, Sardh, Åsa, Hallgren, Mona, Ståhle, Eva, Hagforsen, Maria, Bradley, Per-Henrik D, Edqvist, Fredrik, Pontén, Outi, Mäkitie, Liv, Eidsmo, Lars, Norlén, Adnane, Achour, Ingrid, Dahlbom, Ilma, Korponay-Szabó, Daniel, Agardh, Mohammad, Alimohammadi, Daniel, Eriksson, Takashi, Hashimoto, Olle, Kämpe
المساهمون: HUS Children and Adolescents, Clinicum, Lastentautien yksikkö, Children's Hospital, Department of Medical and Clinical Genetics
المصدر: Proceedings of the National Academy of Sciences of the United States of America
مصطلحات موضوعية: Adult, Male, Medical Sciences, Adolescent, Paraneoplastic Syndromes, autoantibodies, 腫瘍随伴性天疱瘡, Autoantigens, Young Adult, transglutaminase, 自己抗体探索システム, Humans, Child, トランスグルタミナーゼ, Aged, Aged, 80 and over, Transglutaminases, integumentary system, autoimmunity, 1184 Genetics, developmental biology, physiology, biomarkers, Middle Aged, Biological Sciences, Case-Control Studies, 3121 General medicine, internal medicine and other clinical medicine, paraneoplastic, Female, TGM1, Pemphigus
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13
المؤلفون: Amy S. Paller, Keith A. Choate, Jing Zhou, Jouni Uitto, Rong Hua Hu, Deniz A. Akkaya, Leonard M. Milstone, Susan J. Bayliss, Leila Youssefian, Brittany G. Craiglow, Hassan Vahidnezhad, Nareh V. Marukian, Hande Kaymakçalan, Lynn M. Boyden, Amy Theos
المساهمون: Akkaya, Ayşe Deniz, Marukian, Nareh V., Hu, Rong-Hua, Craiglow, Brittany G., Milstone, Leonard M., Zhou, Jing, Theos, Amy, Kaymakcalan, Hande, Uitto, Jouni J., Vahidnezhad, Hassan, Youssefian, Leila, Bayliss, Susan J., Paller, Amy S., Boyden, Lynn M., Choate, Keith A., Koç University Hospital, Department of Dermatology
المصدر: JAMA Dermatology
مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Adolescent, Genotype, Genetic counseling, Bathing suit ichthyosis, Mutation, Missense, Dermatology, Compound heterozygosity, Body Temperature, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, INDEL Mutation, Congenital ichthyosis, Medicine, Humans, Child, Recessive congenital ichthyosis, Transglutaminase 1 mutations, Healing collodion baby, Lamellar ichthyosis, Keratinocyte transglutaminase, TGM1 mutation, Gene, Phenotype, Erythroderma, Deficiency, Original Investigation, Genetics, Academic Medical Centers, Transglutaminases, business.industry, Ichthyosis, Infant, medicine.disease, 030104 developmental biology, Child, Preschool, Female, business, human activities, Ichthyosis, Lamellar, Congenital disorder
وصف الملف: pdf
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14Academic Journal
المساهمون: Akkaya, Ayşe Deniz, Marukian, Nareh V., Hu, Rong-Hua, Craiglow, Brittany G., Milstone, Leonard M., Zhou, Jing, Theos, Amy, Kaymakcalan, Hande, Uitto, Jouni J., Vahidnezhad, Hassan, Youssefian, Leila, Bayliss, Susan J., Paller, Amy S., Boyden, Lynn M., Choate, Keith A., Koç University Hospital, Department of Dermatology
المصدر: JAMA Dermatology
مصطلحات موضوعية: Medicine, Dermatology, Recessive congenital ichthyosis, Transglutaminase 1 mutations, Healing collodion baby, Lamellar ichthyosis, Keratinocyte transglutaminase, TGM1 mutation, Gene, Phenotype, Erythroderma, Deficiency
وصف الملف: pdf
Relation: Publisher Version; Koç University Institutional Repository; IR01270.pdf; 274199; Marukian, N. V., et al. "Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis." Jama Dermatology 153.6 (2017): 537-43.; https://dx.doi.org/10.1001/jamadermatol.2017.0202; WoS; Scopus; PubMed; R068392; NA; http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/3306
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15
المصدر: Medical Principles and Practice
مصطلحات موضوعية: Scaly skin, medicine.medical_specialty, Oman, Tissue transglutaminase, Population, Severity of Illness Index, Acitretin, Consanguinity, Humans, Medicine, Collodion baby, ABCA12, education, Genetics, Original Paper, education.field_of_study, Transglutaminases, biology, business.industry, Ichthyosis, Ectropion, Sequence Analysis, DNA, General Medicine, Lamellar ichthyosis, medicine.disease, Dermatology, Haplotypes, Mutation, biology.protein, Microsatellite, TGM1, business, Ichthyosis, Lamellar, Microsatellite Repeats, medicine.drug
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16Academic Journal
المساهمون: 北京大学第一医院皮肤科,北京,100034
مصطلحات موضوعية: 火棉胶样婴儿 TGM1基因 ALOX12B基因 基因突变 产前诊断 collodion baby TGM1 ALOX12B gene mutation prenatal diagnosis
Relation: 临床皮肤科杂志.2014,43,(9),515-517.; 1132862; http://hdl.handle.net/20.500.11897/267034
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17
المؤلفون: Moreno Saboya, Meyid Bernardo
المساهمون: Laissue, Paul, Fonseca-Mendoza, Dora Janeth
المصدر: Akiyama, M., Sawamura, D. & Shimizu, H. (2003a). The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol 28(3): 235-240
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Ammirati, C. T. & Mallory, S. B. (1998). The major inherited disorders of cornification. New advances in pathogenesis. Dermatol Clin 16(3): 497-508
Aufenvenne, K., Oji, V., Walker, T., Becker-Pauly, C., Hennies, H. C., Stocker, W. & Traupe, H. (2009). Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. J Invest Dermatol 129(8): 2068-2071
Bai, J., Ding, Y. G., Wu, Y. H., Qiao, J. J. & Fang, H. (2015). Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype. Indian J Dermatol Venereol Leprol 81(3): 292-294.
Bale, S. J. & Doyle, S. Z. (1994). The genetics of ichthyosis: a primer for epidemiologists. J Invest Dermatol 102(6): 49S-50S.
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Boeshans, K. M., Mueser, T. C. & Ahvazi, B. (2007). A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis. J Mol Model 13(1): 233-246
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Candi, E., Melino, G., Mei, G., Tarcsa, E., Chung, S. I., Marekov, L. N. & Steinert, P. M. (1995). Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein. J Biol Chem 270(44): 26382-26390
Candi, E., Schmidt, R. & Melino, G. (2005). The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol 6(4): 328-340
Chakravarty, R. & Rice, R. H. (1989). Acylation of keratinocyte transglutaminase by palmitic and myristic acids in the membrane Anchorage region. J Biol Chem 264(1): 625-629.
DiGiovanna, J. J. & Robinson-Bostom, L. (2003). Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol 4(2): 81-95.
Divina, P., Kvitkovicova, A., Buratti, E. & Vorechovsky, I. (2009). Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping. Eur J Hum Genet 17(6): 759-765
Dreyfus, I., Chouquet, C., Ezzedine, K., Henner, S., Chiaverini, C., Maza, A., Pascal, S., Rodriguez, L., Vabres, P., Martin, L., Mallet, S., Barbarot, S., Dupuis, J. & Mazereeuw-Hautier, J. (2014). Prevalence of inherited ichthyosis in France: a study using capture-recapture method. Orphanet J Rare Dis 9: 1
Dror, G., Sorek, R. & Shamir, R. (2005). Accurate identification of alternatively spliced exons using support vector machine. Bioinformatics 21(7): 897-901
Eckl, K. M., de Juanes, S., Kurtenbach, J., Natebus, M., Lugassy, J., Oji, V., Traupe, H., Preil, M. L., Martinez, F., Smolle, J., Harel, A., Krieg, P., Sprecher, E. & Hennies, H. C. (2009). Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol 129(6): 1421-1428
Esposito, G., Tadini, G., Paparo, F., Viola, A., Ieno, L., Pennacchia, W., Messina, F., Giordano, L., Piccirillo, A. & Auricchio, L. (2007). Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. Br J Dermatol 157(4): 808-810
Farasat, S., Wei, M. H., Herman, M., Liewehr, D. J., Steinberg, S. M., Bale, S. J., Fleckman, P. & Toro, J. R. (2009). Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet 46(2): 103-111.
Faustino, N. A. & Cooper, T. A. (2003). Pre-mRNA splicing and human disease. Genes Dev 17(4): 419-437.
Fischer, J. (2009). Autosomal recessive congenital ichthyosis. J Invest Dermatol 129(6): 1319-1321.
Folk, J. E. & Cole, P. W. (1966). Identification of a functional cysteine essential for the activity of guinea pig liver transglutaminase. J Biol Chem 241(13): 3238-3240.
Frost, P. & Van Scott, E. J. (1966). Ichthyosiform dermatoses. Classification based on anatomic and biometric observations. Arch Dermatol 94(2): 113-126.
Ghadially, R., Williams, M. L., Hou, S. Y. & Elias, P. M. (1992). Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. J Invest Dermatol 99(6): 755-763.
Hackett, B. C., Fitzgerald, D., Watson, R. M., Hol, F. A. & Irvine, A. D. (2010). Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. Br J Dermatol 162(2): 448-451.
Herman, G. E. (2000). X-Linked dominant disorders of cholesterol biosynthesis in man and mouse. Biochim Biophys Acta 1529(1-3): 357-373.
Hernandez-Martin, A., Garcia-Doval, I., Aranegui, B., de Unamuno, P., Rodriguez-Pazos, L., Gonzalez-Ensenat, M. A., Vicente, A., Martin-Santiago, A., Garcia-Bravo, B., Feito, M., Baselga, E., Ciria, S., de Lucas, R., Ginarte, M., Gonzalez-Sarmiento, R. & Torrelo, A. (2012). Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain. J Am Acad Dermatol 67(2): 240-244
Hitomi, K., Yamagiwa, Y., Ikura, K., Yamanishi, K. & Maki, M. (2000). Characterization of human recombinant transglutaminase 1 purified from baculovirus-infected insect cells. Biosci Biotechnol Biochem 64(10): 2128-2137.
Huber, M., Rettler, I., Bernasconi, K., Frenk, E., Lavrijsen, S. P., Ponec, M., Bon, A., Lautenschlager, S., Schorderet, D. F. & Hohl, D. (1995). Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267(5197): 525-528.
Iismaa, S. E., Holman, S., Wouters, M. A., Lorand, L., Graham, R. M. & Husain, A. (2003). Evolutionary specialization of a tryptophan indole group for transition-state stabilization by eukaryotic transglutaminases. Proc Natl Acad Sci U S A 100(22): 12636-12641.
Iismaa, S. E., Mearns, B. M., Lorand, L. & Graham, R. M. (2009). Transglutaminases and disease: lessons from genetically engineered mouse models and inherited disorders. Physiol Rev 89(3): 991-1023
Israeli, S., Goldberg, I., Fuchs-Telem, D., Bergman, R., Indelman, M., Bitterman-Deutsch, O., Harel, A., Mashiach, Y., Sarig, O. & Sprecher, E. (2013). Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. Clin Exp Dermatol 38(8): 911-916.
Jacyk, W. K. (2005). Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks. Eur J Dermatol 15(6): 433-436
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Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosarioمصطلحات موضوعية: Ictiosis congénita autosómica recesiva, Variante en sitio consenso aceptor de splicing, Mutación, Clonaje, Transglutaminasa K, Autosomal Recessive Congenital Ichthyosis, Transglutaminase K, Transglutaminasa 1, Predicciones in silico, Enfermedades, ARCI, Transglutaminase 1, Variant in site acceptor splicing consensus, TGM1, Ictiosis, In silico predictions, Cloning
وصف الملف: application/pdf
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المؤلفون: AKBARI, Mohammad Taghi, ATAEI-KACHOUI, Mojgan
المصدر: Iranian Journal of Public Health, Vol 44, Iss 7 (2015)
Iranian Journal of Public Healthمصطلحات موضوعية: ARCI, Lamellar ichthyosis, lcsh:Public aspects of medicine, Case Report, TGM1, lcsh:RA1-1270, Iran, ALOXE3
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المؤلفون: Kirti Deo, Aayush Gupta, Vishal Dixit, Rijith Jayarajan, Yugal K Sharma, Vinod Scaria, Sridhar Sivasubbu, Ankit Verma, Shamsudheen Karuthedath Vellarikkal
المصدر: F1000Research
مصطلحات موضوعية: Genetics, chr22q12, General Immunology and Microbiology, Ichthyosis, Genodermatosis, Case Report, General Medicine, Articles, Genomics, Lamellar ichthyosis, Biology, medicine.disease, General Biochemistry, Genetics and Molecular Biology, Whole Exome Sequencing, Cat eye syndrome, Chromosome (genetic algorithm), Gene duplication, Mutation (genetic algorithm), medicine, TGM1, Pediatric Skin Diseases (incl. Genetic Diseases), General Pharmacology, Toxicology and Pharmaceutics, genodermatosis, Exome sequencing
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المؤلفون: Pigg, Maritta, Gedde-Dahl Jr, Tobias, Cox, Diane, Hausser, Ingrid, Anton-Lamprecht, Ingrun, Dahl, Niklas
المصدر: European Journal of Human Genetics. 6(6):589-96
مصطلحات موضوعية: lamellar ichthyosis, non-bullous congenital ichthyosiform erythroderma, transglutaminase 1 (TGM1) gene, founder effect, MEDICINE, MEDICIN
وصف الملف: print
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