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Andrea Villablanca
Researcher at Karolinska Institutet
Publications - 11
Citations - 933
Andrea Villablanca is an academic researcher from Karolinska Institutet. The author has contributed to research in topics: MEN1 & Germline mutation. The author has an hindex of 9, co-authored 11 publications receiving 881 citations.
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Journal ArticleDOI
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome
John D. Carpten,Christiane M. Robbins,Andrea Villablanca,Lars Forsberg,Silvano Presciuttini,Joan E. Bailey-Wilson,William F. Simonds,E. Gillanders,A.M. Kennedy,Jindong Chen,Sunita K. Agarwal,Raman Sood,Mary Pat Jones,Tracy Moses,C. Haven,David Petillo,P.D. Leotlela,Brian Harding,David Cameron,Anna A.J. Pannett,Anders Höög,H. Heath,Laura James-Newton,Bruce G. Robinson,R.J. Zarbo,Branca M. Cavaco,Wassif S. Wassif,N.D. Perrier,I.B. Rosen,Ulf Kristoffersson,Peter D. Turnpenny,Lars-Ove Farnebo,G. M. Besser,Charles E. Jackson,Hans Morreau,J.M. Trent,Rajesh V. Thakker,Stephen J. Marx,Bin Tean Teh,Catharina Larsson,Maurine R. Hobbs +40 more
TL;DR: The findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT–JT and in development of some sporadic parathyroid tumors.
Journal ArticleDOI
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)
Andrea Villablanca,Alain Calender,Lars Forsberg,Anders Höög,Cheng Jd,David Petillo,C. Bauters,K. Kahnoski,Tapani Ebeling,Pasi I. Salmela,Anne-Louise Richardson,Leigh Delbridge,Meyrier A,Charles Proye,John D. Carpten,Bin Tean Teh,Bruce G. Robinson,Catharina Larsson +17 more
TL;DR: The inactivating mutations demonstrated in the germline of HPT-JT kindreds and as somatic events in some sporadic parathyroid adenomas3 are in agreement with the observations of somatic loss of the wild type alleles, suggesting that parafibromin has a tumour suppressor function.
Journal ArticleDOI
Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-beta in parathyroid carcinomas.
C. Christofer Juhlin,Felix Haglund,Andrea Villablanca,Lars Forsberg,Kerstin Sandelin,Robert Bränström,Catharina Larsson,Anders Höög +7 more
TL;DR: The results suggest the involvement of Wnt-pathway members APC and GSK3-beta in parathyroid carcinoma development and could become a useful tool for improved recognition of parathyro carcinoma together with immunohistochemistry for parafibromin and proliferation index.
Journal ArticleDOI
Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.
Andrea Villablanca,Wassif S. Wassif,Thomas Smith,Anders Höög,Outi Vierimaa,Moustapha Kassem,Trisha Dwight,Lars Forsberg,Quan Du,Diana L. Learoyd,Keston Jones,Steve Stranks,Claes Juhlin,Bin Tean Teh,Tobias Carling,Bruce G. Robinson,Catharina Larsson +16 more
TL;DR: The involvement of the MEN1 tumour suppressor gene in the pathogenesis of some of the FIHP kindreds is supported and it is concluded that the altered MEN1 gene function is of importance in the development of FIHP.
Journal ArticleDOI
Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism.
Nancy D. Perrier,Andrea Villablanca,Catharina Larsson,Mariwil G. Wong,Philip H.G. Ituarte,Bin Tean Teh,Bin Tean Teh,Orlo H. Clark +7 more
TL;DR: Genetic screening of families who clinically have FIHP is important and may influence the type of medical and surgical treatment and follow-up, as some have MEN-1 syndrome.