Dr. Karen E. Heath

Universidad Autónoma de Madrid, Spain

Email: [email protected]

Qualifications

1999 Ph.D., University College London, Genetics
1993 M.Sc., University of Glasgow, Medical Genetics
1992 B.Sc., University of Leeds, Genetics

Publications (Selected)

1. Aza-Carmona M, Shears DJ, Yuste-Checa P, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Benito-Sanz S, Rodríguez JI, Argente J, Campos-Barros A, Scambler PJ, Heath KE.SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.Hum Mol Genet.2011;20(8):1547-59.
2. Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE.Clinical and molecular evaluation ofSHOX/PAR1 duplications in Léri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).J Clin Endocrinol & Metab:2010;96(2):E404-12.
3. Benito-Sanz S, Aragones A, Gracia R, Campos-Barros A, Heath KE.A non-pathogenic pseudoautosomal region 1 copy number variant downstream ofSHOX.Am J Med Genet:Am J Med Genet A. 2011 Mar 17. doi: 10.1002/ajmg.a.33872. [Epub ahead of print].
4. Aza-Carmona M, Barreda-Bonis AC, Guerrero-Fernández J, González-Casado I, Gracia R, Heath KE.Familial glucocorticoid deficiency due to compound heterozygosity of two novelMC2Rmutations. J Ped Clin Endocrinol: in press.
5. Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P,Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, del Campo M, Lapunzina P.CDKN1C (p57Kip2)Analysis in Beckwith-Wiedemann syndrome (BWS) Patients: Genotype-phenotype Correlations, Novel Mutations, and Polymorphisms.Am J Med Genet:2010;152A(6):1390-7.
6. Barroso E, Benito-Sanz S, Belinchón A, Yuste-Checa P, Gracia R, Aragones A, Campos-Barros A, Heath KE.Identification of the firstde novoPAR1 deletion downstream ofSHOX inan individual diagnosed with Léri-Weill dischondrosteosis (LWD).Eur J Med Genet2010:53(4): 204-207.
7. Heath KE, Barros E, Gracia R.Bases moleculares de la Enfermedad suprarrenal y aplicación.Rev Horm Crecim, Numero monográfico “Avances en Endocrinología I” 2009;XII(2):67-84
8. Romanelli V, Belinchón A, Campos-Barros A, Heath KE,García-Miñaur S,Martínez-Glez V,Palomo R, Mercado G, Gracia R, Lapunzina P. CDKN1C Mutations in HELLP/Preeclamptic Mothers of Beckwith–Wiedemann Syndrome (BWS) Patients.Placenta2009; 30(6): 551- 554.
9. Heath KE, Diaz F, Martos GA, Argente J, Campos-Barros A. Primary IGF-1 deficiency due toIGFALS mutations define a new form of postnatal growth deficit associated to low circulating IGF-I, IGFBP-3, ALS and hyperinsulinemia.J Clin Endocrinol & Metab2008; 93:1616-1624.
10. Campos-Barros A, Benito-Sanz S, Ross JL, Zinn AR, Heath KE.Compound heterozygosity ofSHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD).Am J Med Genet: 2007: 143A:933-938.
11. Benito-Sanz S, Gorbenko del Blanco D, Aza-Carmona M, Magano LF, Lapunzina P, Argente J, Campos-Barros A, Heath KE.PAR1 deletions downstream ofSHOXare the most frequent defect in a Spanish cohort of Leri-Weill dyschondrosteosis (LWD) probands.Hum Mutat2006; 27: 1062.
12. Benito-Sanz S, Gorbenko del Blanco D, Huber C, Thomas NS, Aza-Carmona M, Bunyan D, Maloney V, Argente J, Cormier-Daire V, Campos-Barros A, Heath KE.Characterization ofSHOXdeletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.Am J Hum Genet2006; 79: 409-14.
13. Benito-Sanz S, Thomas NT, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE. A novel class of Pseudoautosomal region 1 deletions downstream ofSHOXis associated with Leri-Weill dyschondrosteosis.Am J Hum Genet2005; 77: 533-44.
14. Heath KE, Fernandez-Sanchez ME, Criado-Garcia, Garcia-Fojeda B, Medrano-Fernandez I, Gomez-Garre P, Sanz P, Serratosa JM, Rodriguez de Cordoba S. Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.Hum Mol Genet2003; 12: 3161-71.
15. Toren, A, Rozenfeld-Granot G, Heath KE, Amariglio N, Rocca B, Crosson J, Epstein CJ, Laghi F, Landolfi R, Carlson LE, Argraves S, Brok-Simon F, Martignetti JA, Greinacher A, Rechavi G. The possibility of di-allelic inactivation of fibulin-1 by antisense RNA in the MYHIIA syndrome.Am J Hematol2003; 74: 254-62.
16. Narla N, Heath KE, Reeves HL, Li D, Giono LE, Kimmelman AC, Glucksman MJ, Narla J, Eng FJ, Chan AM, Ferrari A, Martignetti JA, Friedman SL.KLF6 is a candidate tumor suppressor gene mutated in prostate cancer.Science2001; 294 (5551): 2563-6.
17. HeathKE, Campos-Barros A, TorenA, Rozenfeld-GranotG, Carlsson LE, Savige J, DenisonJC, Gregory MC, White JG, BarkerDF, Greinacher A, Epstein CJ, GlucksmanMJ, Martignetti JA.Nonmuscle myosin heavy chain IIA (MYHIIA) mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport-like syndromes.Am J Hum Genet2001; 69: 1033-1045.
18. Heath KE, Humphries SE, Middleton-Price H, Boxer M. A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.Eur J Hum Genet2001; 9: 244-52.
19. Heath KE, Gahan M, Whittall RA, Humphries SE. Low-density lipoprotein receptor gene (LDLR) worldwide website in familial hypercholesterolaemia: update, new features and mutation analysis.Atherosclerosis.2001; 154: 243-246.
20. Heath KE, Whittall RA, Miller, GJ, Humphries SE. I705 variant in the low-density -lipoprotein receptor gene has no effect on plasma cholesterol.J Med Genet2000; 37: 713-15.

Profile Details

https://www.comunidad.madrid/hospital/lapaz/profesionales/servicios-centrales/genetica-ingemm
https://orcid.org/0000-0002-5816-7044
https://scholar.google.com/citations?user=3SEMwpQAAAAJ&hl=en