Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Kristina L. Stone"'
Autor:
Michael A. Simpson, Lu Liu, James R. McMillan, Kristina L. Stone, Takuya Takeichi, John A. McGrath, Masashi Akiyama, Alya Abdul-Wahab, Jemima E. Mellerio, Maddy Parsons
Publikováno v:
Takeichi, T, Liu, L, Abdul-Wahab, A, McMillan, J R, Stone, K L, Akiyama, M, Simpson, M A, Parsons, M, Mellerio, J E & McGrath, J A 2016, ' Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis ', Journal of Investigative Dermatology, vol. 136, no. 10, pp. 2095-2098 . https://doi.org/10.1016/j.jid.2016.06.016
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cca3f6b71642b7d02b7cd241bdd3d91
https://doi.org/10.1016/j.jid.2016.06.016
https://doi.org/10.1016/j.jid.2016.06.016
Autor:
Kirstin M. Taylor, Bu'Hussain Hayee, Kristina L. Stone, Christopher G. Mathew, John C. Mansfield, Ariella Amar, Yasmin Omar, Michael A. Simpson, Katrina M. de Lange, Alexandros Onoufriadis, Jeremy D. Sanderson, Jeffrey C. Barrett, Richard Pollok, Natalie J. Prescott, Antreas Katsiamides
Publikováno v:
Onoufriadis, A, Stone, K, Katsiamides, A, Amar, A, Omar, Y, de Lange, K M, Taylor, K, Barrett, J C, Pollok, R, Hayee, BH, Mansfield, J C, Sanderson, J D, Simpson, M A, Mathew, C G & Prescott, N J 2018, ' Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis ', Journal of Crohn's & colitis, vol. 12, no. 3, pp. 321–326 . https://doi.org/10.1101/182113, https://doi.org/10.1093/ecco-jcc/jjx157
Background and aimsAlthough genome-wide association studies (GWAS) in inflammatory bowel disease (IBD) have identified a large number of common disease susceptibility alleles for both Crohn’s disease (CD) and ulcerative colitis (UC), a substantial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::186a7026f500e5a5b310d2538ddaf8e9
https://openaccess.sgul.ac.uk/id/eprint/109399/7/jjx157.pdf
https://openaccess.sgul.ac.uk/id/eprint/109399/7/jjx157.pdf
Autor:
Arti Nanda, John A. McGrath, Kristina L. Stone, Takuya Takeichi, Michael A. Simpson, Amr Salam, Masashi Akiyama
Publikováno v:
Matrix Biology. 33:35-40
Finding pathogenic mutations in monogenic diseases represents one of the significant milestones of late 20th century molecular genetics. Mutation data can improve genetic counseling, assist disease modeling and provide a basis for translational resea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cf14a9a20b6341f1c377bbdcc52d6bc
Autor:
Louise Izatt, Kevin Ryan, JooWook Ahn, Paul V. Carroll, Michael A. Simpson, Michael Yau, Kristina L. Stone, Suzanne Lillis, Lina Brodd
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8427970f3188dcc9c6104814ae7d5f13
https://doi.org/10.1530/endoabs.38.p360
https://doi.org/10.1530/endoabs.38.p360
Autor:
Penny E. Morton, Jemima E. Mellerio, Sachin N Patil, Michael A. Simpson, Lu Liu, Cheryl Wellington, Masashi Akiyama, James R. McMillan, Takuya Takeichi, Alya Abdul-Wahab, Sophia Aristodemou, John I. Harper, Maddy Parsons, Akemi Ishida-Yamamoto, Nerys Roberts, Amr Salam, Patrick Campbell, Gabriela Petrof, Laura E. Proudfoot, Sarawin Harnchoowong, Kristina L. Stone, W.H. Irwin McLean, Kingi Aminu, Kenneth Fong, John A. McGrath
Publikováno v:
The Journal of investigative dermatology. 134(10)
Epidermal growth factor receptor (EGFR) signaling is fundamentally important for tissue homeostasis through EGFR/ligand interactions that stimulate numerous signal transduction pathways. Aberrant EGFR signaling has been reported in inflammatory and m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b799a51b1ffb9bb8ee65acca1febb13
https://pubmed.ncbi.nlm.nih.gov/25891911
https://pubmed.ncbi.nlm.nih.gov/25891911
Autor:
Masashi Akiyama, Kenneth Fong, Patrick Campbell, John A. McGrath, Lu Liu, Linda Ozoemena, Arti Nanda, Takuya Takeichi, Hejab Al-Ajmi, Michael A. Simpson, Amr Salam, Kristina L. Stone
Publikováno v:
Experimental dermatology. 22(12)
Individuals with inherited skin diseases often pose one of the most difficult diagnostic challenges in dermatology. The hunt for the underlying molecular pathology may involve candidate gene screening or linkage analysis, which is usually determined
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2753a75bbf9532d11973048a72e5f3ec
https://pubmed.ncbi.nlm.nih.gov/24279917
https://pubmed.ncbi.nlm.nih.gov/24279917
Autor:
Lu Liu, Celine Pourreyron, Kristina L. Stone, Michael A. Simpson, John A. McGrath, W.H. Irwin McLean, Andrew P. South, Anna E. Martinez, Madeline Parsons, Jemima E. Mellerio, Rumena Begum, Patricia J.C. Dopping-Hepenstal, James R. McMillan
The Rab GTPase Rab27B and one of its effector proteins, Slac2-b (also known as EXPH5, exophilin-5), have putative roles in intracellular vesicle trafficking but their relevance to human disease is not known. By using whole-exome sequencing, we identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71f86de12d4a17381925f55a54b97531
https://europepmc.org/articles/PMC3516608/
https://europepmc.org/articles/PMC3516608/
Autor:
Linda Ozoemena, John A. McGrath, AI MacKenzie, Kristina L. Stone, Michael A. Simpson, Patricia J.C. Dopping-Hepenstal, Anna E. Martinez, Lin Liu, Jemima E. Mellerio
Publikováno v:
Archives of Disease in Childhood. 98:A17-A18
Inherited skin peeling may be autosomal recessive (AR) or autosomal dominant (AD). When AR, this can be localised, as in acral peeling skin syndrome (APSS); or generalised, as in peeling skin syndrome (PSS) types A (non-inflammatory) and B (inflammat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::05a5c300b247b78e99d07ddeea23f7cb
https://doi.org/10.1136/archdischild-2013-304107.041
https://doi.org/10.1136/archdischild-2013-304107.041
Publikováno v:
Pediatric Dermatology. 30:e87-e88
Acral peeling skin syndrome (APSS) is a clinically and genetically heterogeneous disorder. We used whole-exome sequencing to identify the molecular basis of APSS in a consanguineous Jordanian-American pedigree. We identified a homozygous nonsense mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5add8757f6042ac54da32bb08b3e3589
https://doi.org/10.1111/pde.12092
https://doi.org/10.1111/pde.12092
Autor:
Takeichi, Takuya1,2, Nanda, Arti3, Liu, Lu4, Salam, Amr1, Campbell, Patrick1, Fong, Kenneth1, Akiyama, Masashi2, Ozoemena, Linda4, Stone, Kristina L.5, Al‐Ajmi, Hejab3, Simpson, Michael A.5, McGrath, John A.1
Publikováno v:
Experimental Dermatology. Dec2013, Vol. 22 Issue 12, p825-831. 7p.