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Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients.
Published in:
Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00603-x
By:
- Ho, Minh;
- Nguyen, Huynh-Nga;
- Van Hoang, Minh;
- Bui, Tien Thuy Thi;
- Vu, Bao-Quoc;
- Dinh, Truc Huong Thi;
- Vo, Hoa Thi My;
- Blaydon, Diana C.;
- Eldirany, Sherif A.;
- Bunick, Christopher G.;
- Bui, Chi-Bao
Publication type:
Article
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
Published in:
Nature Genetics, 2006, v. 38, n. 11, p. 1245, doi. 10.1038/ng1883
By:
- Blaydon, Diana C.;
- Ishii, Yoshiyuki;
- O'Toole, Edel A.;
- Unsworth, Harriet C.;
- Teh, Muy-Teck;
- Rüschendorf, Franz;
- Sinclair, Claire;
- Hopsu-Havu, Väinö K.;
- Tidman, Nicholas;
- Moss, Celia;
- Watson, Rosemarie;
- de Berker, David;
- Wajid, Muhammad;
- Christiano, Angela M.;
- Kelsell, David P.
Publication type:
Article
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
Published in:
Nature Genetics, 2000, v. 26, n. 1, p. 56, doi. 10.1038/79178
By:
- Bitner-Glindzicz, Maria;
- Lindley, Keith J.;
- Rutland, Paul;
- Blaydon, Diana;
- Smith, Virpi V.;
- Milla, Peter J.;
- Hussain, Khalid;
- Furth-Lavi, Judith;
- Cosgrove, Karen E.;
- Shepherd, Ruth M.;
- Barnes, Philippa D.;
- O'Brien, Rachel E.;
- Farndon, Peter A.;
- Sowden, Jane;
- Liu, Xue-Zhong;
- Scanlan, Matthew J.;
- Malcolm, Sue;
- Dunne, Mark J.;
- Aynsley-Green, Albert
Publication type:
Article
The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report.
Published in:
2016
By:
- Bruun Krøigård, Anne;
- Hetland, Liv Eline;
- Clemmensen, Ole;
- Blaydon, Diana C.;
- Michael Hertz, Jens;
- Bygum, Anette;
- Krøigård, Anne Bruun;
- Hertz, Jens Michael
Publication type:
journal article
Identification of novel immune cell signature in gastroesophageal reflux disease: altered mucosal mast cells and dendritic cell profile.
Published in:
Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1282577
By:
- Ustaoglu, Ahsen;
- Daudali, Fatema Arif;
- D'afflitto, Manfredi;
- Murtough, Stephen;
- Chung Lee;
- Moreno, Estefania;
- Blaydon, Diana C.;
- Kelsell, David P.;
- Sifrim, Daniel;
- Woodland, Philip;
- Peiris, Madusha
Publication type:
Article
Infantile Hyperinsulinism Associated with Enteropathy, Deafness and Renal Tubulopathy: Clinical Manifestations of a Syndrome Caused by a Contiguous Gene Deletion Located on Chromosome 11p.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2004, v. 17, n. 12, p. 1613, doi. 10.1515/jpem.2004.17.12.1613
By:
- Hussain, Khalid;
- Bitner-Glindzicz, Maria;
- Blaydon, Diana;
- Lindley, Keith J.;
- Thompson, Dorothy A.;
- Kriss, Tony;
- Rajput, Kaukat;
- Ramadan, Dina G.;
- Al-Mazidi, Z.;
- Cosgrove, Karen E.;
- Dunne, Mark J.;
- Aynsley-Green, Albert
Publication type:
Article
Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16.
Published in:
Nature Communications, 2017, v. 8, n. 1, p. 14174, doi. 10.1038/ncomms14174
By:
- Maruthappu, Thiviyani;
- Chikh, Anissa;
- Fell, Benjamin;
- Delaney, Paul J.;
- Brooke, Matthew A.;
- Levet, Clemence;
- Moncada-Pazos, Angela;
- Ishida-Yamamoto, Akemi;
- Blaydon, Diana;
- Waseem, Ahmad;
- Leigh, Irene M.;
- Freeman, Matthew;
- Kelsell, David P.
Publication type:
Article
Targeted Sequence Capture and High-Throughput Sequencing in the Molecular Diagnosis of Ichthyosis and Other Skin Diseases.
Published in:
Journal of Investigative Dermatology, 2013, v. 133, n. 2, p. 573, doi. 10.1038/jid.2012.332
By:
- Scott, Claire A;
- Plagnol, Vincent;
- Nitoiu, Daniela;
- Bland, Philip J;
- Blaydon, Diana C;
- Chronnell, Catherine M;
- Poon, Daniel S;
- Bourn, David;
- Gárdos, László;
- Császár, Andrea;
- Tihanyi, Mariann;
- Rustin, Malcolm;
- Burrows, Nigel P;
- Bennett, Chris;
- Harper, John I;
- Conrad, Bernard;
- Verma, Ishwar C;
- Taibjee, Saleem M;
- Moss, Celia;
- O'toole, Edel A
Publication type:
Article
Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia.
Published in:
Journal of Investigative Dermatology, 2008, v. 128, n. 4, p. 867, doi. 10.1038/sj.jid.5701078
By:
- Ishii, Yoshiyuki;
- Wajid, Muhammad;
- Bazzi, Hisham;
- Fantauzzo, Katherine A.;
- Barber, Alison G.;
- Blaydon, Diana C.;
- Ju-Suk Nam;
- Yoon, Jeong K.;
- Kelsell, David Peter;
- Christiano, Angela M.
Publication type:
Article
Rhomboid proteins: a role in keratinocyte proliferation and cancer.
Published in:
Cell & Tissue Research, 2013, v. 351, n. 2, p. 301, doi. 10.1007/s00441-012-1542-1
By:
- Etheridge, Sarah;
- Brooke, Matthew;
- Kelsell, David;
- Blaydon, Diana
Publication type:
Article
p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03470-y
By:
- Arcidiacono, Paola;
- Webb, Catherine M.;
- Brooke, Matthew A.;
- Huiqing Zhou;
- Delaney, Paul J.;
- Keat-Eng Ng;
- Blaydon, Diana C.;
- Tinker, Andrew;
- Kelsell, David P.;
- Chikh, Anissa
Publication type:
Article
Fabry disease: 20 novel GLA mutations in 35 families.
Published in:
Human Mutation, 2001, v. 18, n. 5, p. 459, doi. 10.1002/humu.1219
By:
- Blaydon, Diana;
- Hill, Jane;
- Winchester, Bryan
Publication type:
Article

Found: 12