Zobrazeno 1 - 10
of 39
pro vyhledávání: '"P. B. Cserhalmi-Friedman"'
Autor:
Angela M. Christiano, Julide Tok Celebi, Amalia Martinez-Mir, P. B. Cserhalmi-Friedman, Vincent Falanga, M. Massé
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
5 páginas, 2 figuras.
In this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hal
In this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb3e9d2c60aa41c7f38e2cf5b2d3ecb
https://doi.org/10.1111/j.1365-2230.2005.01763.x
https://doi.org/10.1111/j.1365-2230.2005.01763.x
Publikováno v:
Experimental Dermatology. 13:155-162
Ribozyme technology is widely used to target mRNA in a sequence-specific fashion and thus change the expression pattern of cells or tissues. While the goal of mRNA targeting is usually the cleavage of mutant mRNAs with the prospect of gene therapy fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a848156c12241c89f072d5f6457bdf8
https://doi.org/10.1111/j.0906-6705.2004.0143.x
https://doi.org/10.1111/j.0906-6705.2004.0143.x
Publikováno v:
Experimental Dermatology. 12:712-715
The application of ribozymes for gene therapy of autosomal dominant diseases has become popularized in recent years. Further this technology has widespread utility in the treatment of any disease, acquired or inherited, by inhibition of gene expressi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4940495951ef3f5b451bc2cad99eca3
https://doi.org/10.1034/j.1600-0625.2003.00081.x
https://doi.org/10.1034/j.1600-0625.2003.00081.x
Autor:
R. F. Oliver, Colin A.B. Jahoda, Kenneth A. Horne, J. W. Gillespie, P. B. Cserhalmi-Friedman, J. C. Forrester, Angela M. Christiano, Amanda J. Reynolds
Publikováno v:
Experimental Dermatology. 10:229-237
A series of experimental bioassays has shown that the dermal papilla of the adult rodent vibrissa hair follicle retains unique inductive properties. In view of the many phenotypic and functional differences between specific hair follicle types, and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c38b5b67c120533f80bdf4919898775
https://doi.org/10.1034/j.1600-0625.2001.100402.x
https://doi.org/10.1034/j.1600-0625.2001.100402.x
Autor:
Wasim Ahmad, Jorge Frank, Andrey A. Panteleyev, P. B. Cserhalmi-Friedman, Angela M. Christiano, Vincent M. Aita
Publikováno v:
Experimental Dermatology. 10:95-99
Desmocollins, members of the desmosomal cadherin family, are known to play an important role in desmosomal intercellular adhesion. The human desmosomal cadherin cluster is located on chromosome 18q12, and consists of three desmoglein and three desmoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae8bef0ffdd680872c2c7229e4377926
https://doi.org/10.1034/j.1600-0625.2001.010002095.x
https://doi.org/10.1034/j.1600-0625.2001.010002095.x
Autor:
Wasim Ahmad, Angela M. Christiano, Jorge Frank, Andrey A. Panteleyev, P. B. Cserhalmi-Friedman, Vincent M. Aita
Publikováno v:
Experimental Dermatology. 10:90-94
The human desmoglein genes, desmogleins 1–3, are members of the desmosomal cadherin superfamily, and encode critical components of the desmosome. These genes are tightly clustered within 150–200 kb of chromosome 18q12.1 and represent excellent ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d35a1bb8bba188c9fa4a3eb355c6fe1
https://doi.org/10.1034/j.1600-0625.2001.010002090.x
https://doi.org/10.1034/j.1600-0625.2001.010002090.x
Autor:
P. B. Cserhalmi-Friedman, Alexis Adler, Angela M. Christiano, Y. X. Tang, Lewis Krey, James A. Grifo
Publikováno v:
Experimental Dermatology. 9:290-297
The Herlitz type of junctional epidermolysis bullosa (H-JEB) is a severe inherited bullous disease which leads to the early demise of the affected newborn. Mutations in the genes encoding the 3 polypeptides of the anchoring filament protein laminin 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6724261c0e528482f9bd3aa0c2e15ad0
https://doi.org/10.1034/j.1600-0625.2000.009004290.x
https://doi.org/10.1034/j.1600-0625.2000.009004290.x
Publikováno v:
Clinical and Experimental Dermatology. 24:412-415
Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant disorder of keratinization. It is characterized by a mild epidermolytic ichthyosis which tends to localize to the flexures. Affected individuals are born with widespread blistering, which d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd7aff21146d10547b21fe9c12261bd7
https://doi.org/10.1046/j.1365-2230.1999.00514.x
https://doi.org/10.1046/j.1365-2230.1999.00514.x
Publikováno v:
Experimental Dermatology. 11:468-470
We studied a single patient with the lethal (Herlitz) type of junctional epidermolysis bullosa (H-JEB). Screening for mutations in the LAMB3 gene in the patient revealed the previously described hotspot mutation R635X and a novel one basepair deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::203ba31407d5cc00476df0714d75f415
https://doi.org/10.1034/j.1600-0625.2002.110511.x
https://doi.org/10.1034/j.1600-0625.2002.110511.x
Publikováno v:
Clinical and Experimental Dermatology. 26:205-207
The junctional form of epidermolysis bullosa (JEB) is an inherited blistering disease in which blisters occur at the level of the lamina lucida in the cutaneous basement membrane zone. Specific mutations have been detected in the genes encoding diffe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4daadce6d20899fd4a4f12a08e60f95
https://doi.org/10.1046/j.1365-2230.2001.00797.x
https://doi.org/10.1046/j.1365-2230.2001.00797.x