Výsledky vyhledávání - "Rebecca L. Haines"

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

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

Zobrazit plný text záznamu

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

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,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d44f48be3c7e44794c42dfc01aafb3c
https://doi.org/10.1016/j.jaci.2017.10.001

Zobrazit plný text záznamu

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

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

Zobrazit plný text záznamu

Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6e48e85300d568163fe9fcd3ad3e046f
https://doi.org/10.1111/j.1365-2133.2011.10331.x

Zobrazit plný text záznamu

btn1 Affects Endocytosis, Polarization of Sterol-Rich Membrane Domains and Polarized Growth in Schizosaccharomyces pombe

Autor: Sandra Codlin, Sara E. Mole, Rebecca L. Haines

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc0c6da0dd3718c00d163f529c034909
http://europepmc.org/articles/PMC2440566

Zobrazit plný text záznamu

Filaggrin Null Mutations Are Not a Protective Factor for Acne Vulgaris

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7faac3a8ea8736429e4b1567f0ac8d9f

Zobrazit plný text záznamu

Keratins and disease at a glance

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95c94f3db6e91c7986c7bd43fb13d874
https://pubmed.ncbi.nlm.nih.gov/23104737

Zobrazit plný text záznamu

Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease

Autor: Michael R. Pears, Sara E. Mole, Rebecca L. Haines, Ian J. White, Russell J. Mortishire-Smith, Sandra Codlin, Julian L. Griffin

Publikováno v: Molecular bioSystems. 6(6)

The neuronal ceroid lipofuscinoses (NCLs) constitute a group of autosomal recessive neurodegenerative diseases affecting children. To date, the disease pathogenesis remains unknown, although the role of lysosomal impairment is widely recognized acros

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb6886d923d174d813235b8db6e98674
https://pubmed.ncbi.nlm.nih.gov/21264388

Zobrazit plný text záznamu

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3

Autor: Sara E. Mole, Sandra Codlin, Rebecca L. Haines

SUMMARY The function of the CLN3 protein, which is mutated in patients with the neurodegenerative lysosomal storage disorder Batten disease, has remained elusive since it was identified 13 years ago. Here, we exploited the Schizosaccharomyces pombe m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c3e5224bf2ef57080592546860a6628
https://europepmc.org/articles/PMC2615160/

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání