Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Rebecca L. Haines"'
Autor:
Andrew E. Fry, Vassilis Ragoussis, Alistair T. Pagnamenta, Martin A. McClatchey, Rebecca L Haines, Julian R. Sampson, Alice Gardham, Jan-Maarten Cobben, Edoardo Giacopuzzi, Mohnish Suri, Jenny C. Taylor, Deborah Osio
Publikováno v:
Journal of medical genetics. BMJ Publishing Group
Defects in tubulin beta 2A class IIa (TUBB2A) are associated with a range of complex cerebral cortex dysplasias.1 Despite several studies reporting NM_001069.3:c.743C>T p.(Ala248Val) as a recurrent pathogenic mutation,1 2 it is listed in ClinVar with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208a57a45944be11193fa841d6406d7b
https://ora.ox.ac.uk/objects/uuid:cdef1d4e-5592-49a2-a1ae-5603a8fc4c76
https://ora.ox.ac.uk/objects/uuid:cdef1d4e-5592-49a2-a1ae-5603a8fc4c76
Autor:
Vassilis, Ragoussis, Alistair T, Pagnamenta, Rebecca L, Haines, Edoardo, Giacopuzzi, Martin A, McClatchey, Julian R, Sampson, Mohnish, Suri, Alice, Gardham, Jan-Maarten, Cobben, Deborah, Osio, Andrew E, Fry, M, Zarowiecki
Publikováno v:
Journal of medical genetics. 59(4)
Autor:
Jianjun Liu, Rebecca L. Haines, Simon Denil, X.F. Colin C. Wong, Angeline S. L. Tay, Aileen Sandilands, Frances J.D. Smith, W.H. Irwin McLean, Mark B Y Tang, E. Birgitte Lane, Jia Nee Foo, John E.A. Common, Huijia Chen
Publikováno v:
The Journal of Allergy and Clinical Immunology
The filaggrin gene (FLG) is essential for skin differentiation and epidermal barrier formation. FLG loss-of-function (LoF) variants are associated with ichthyosis vulgaris and the major genetic risk factor for developing atopic dermatitis (AD).1, 2,
Autor:
Angeline S. L. Tay, John E.A. Common, Simon Denil, Mark B Y Tang, Rebecca L. Haines, E. Birgitte Lane, Jianjun Liu, X.F. Colin C. Wong, W.H. Irwin McLean, Jia Nee Foo, Huijia Chen
The filaggrin gene (FLG) is essential for skin differentiation and epidermal barrier formation with links to skin diseases, however it has a highly repetitive nucleotide sequence containing very limited stretches of unique nucleotides for precise map
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1a5426713c513b34e0828310a78ad2c
https://doi.org/10.1101/103416
https://doi.org/10.1101/103416
Autor:
Huijia Chen, Linda E. Campbell, Mark B Y Tang, H. P. Van Bever, Sara J. Brown, Rebecca L. Haines, A. Balakrishnan, Yoke Chin Giam, Karin Kroboth, Christabelle S M Goh, Heather J. Cordell, Whi McLean, Aileen Sandilands, Alan D. Irvine, Ellen Birgitte Lane, D L M Goh, John E.A. Common
Publikováno v:
British Journal of Dermatology. 165:106-114
Summary Background Null mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris (IV) and predispose to atopic dermatitis (AD). Cohort studies in Europe and Japan have reported an FLG mutation carrier frequency of between 14% and 56%, but the
Publikováno v:
Journal of Cell Science. 121:2860-2870
btn1, the Schizosaccharomyces pombe orthologue of the human Batten-disease gene CLN3, is involved in vacuole pH homeostasis. We show that loss of btn1 also results in a defective cell wall marked by sensitivity to zymolyase, a beta-glucanase. The def
Publikováno v:
Traffic (Copenhagen, Denmark)
btn1, the Schizosaccharomyces pombe orthologue of the human Batten disease gene CLN3, exerts multiple cellular effects. As well as a role in vacuole pH homoeostasis, we now show that Btn1p is essential for growth at high temperatures. Its absence res
Autor:
Rebecca L. Haines, Jianjun Liu, H. Chen, C. Wong, I. McLean, Jia Nee Foo, Simon Denil, John E.A. Common, Angeline Su Ling Tay, B. Lane, Mark B Y Tang
Publikováno v:
Journal of Investigative Dermatology. 137:S91
Autor:
Anita Balakrishnan, Christabelle S M Goh, Audrey W.H. Tan, Rebecca L. Haines, John E.A. Common, Mark B.Y. Tang, E. Birgitte Lane, Huijia Chen, H.H. Tan, Sara J. Brown, Colin S. Munro
Publikováno v:
Journal of Investigative Dermatology. 131(6):1378-1380
TO THE EDITOR Acne vulgaris is a very common skin disorder, affecting to some degree 88–94% of Singaporean adolescents (Tan et al., 2007; Yosipovitch et al., 2007). Genetic predisposition is a significant risk factor, as illustrated by familial and
Autor:
Rebecca L. Haines, E. Birgitte Lane
Publikováno v:
Journal of cell science. 125(Pt 17)
Keratins are cytoskeletal filament-forming proteins found in skin and other epithelial (sheet) tissues ([Table 1][1]). Keratins (type I and II), and other highly related (types III–VI) intermediate filament or nanofilament proteins, used to be thou