Julia R. Forman

发表

Naturally Occurring Mutations Alter the Stability of Polycystin-1 Polycystic Kidney Disease (PKD) Domains*

J. Clarke, A. Oberhauser, Liang Ma, 2009, The Journal of Biological Chemistry.

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis

Michael R. Kendall, F. Darendeliler, S. Kurtoğlu, 2012, Journal of pediatric endocrinology & metabolism : JPEM.

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

D. Chitayat, S. Watson, M. Donowitz, 2010, Gastroenterology.

A Structural Bioinformatics Approach to the Analysis of nonsynonymous Single nucleotide polymorphisms (nsSNPS) and their Relation to Disease

Sungsam Gong, David F. Burke, Tom L. Blundell, 2007, J. Bioinform. Comput. Biol..

Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD

Fiona Douglas, Louise Izatt, Patrick J Morrison, 2010, Human mutation.

Structural bioinformatics mutation analysis reveals genotype–phenotype correlations in von Hippel‐Lindau disease and suggests molecular mechanisms of tumorigenesis

Catherine L. Worth, Tom L Blundell, T. Blundell, 2009, Proteins.

Mechanical unfolding of proteins: insights into biology, structure and folding.

Jane Clarke, J. Clarke, Julia R Forman, 2007, Current opinion in structural biology.

Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

Michael R. Kendall, M. Karkucak, T. Yakut, 2010, Clinical endocrinology.

Atomic force microscopy: mechanical unfolding of proteins.

J. Clarke, Ross W S Rounsevell, Julia R. Forman, 2004, Methods.

The remarkable mechanical strength of polycystin-1 supports a direct role in mechanotransduction.

E. Paci, J. Clarke, R. Sandford, 2005, Journal of molecular biology.

Non-Native Interactions Are Critical for Mechanical Strength in PKD Domains

E. Paci, J. Clarke, R. Sandford, 2009, Structure.

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

D. Chitayat, S. Watson, M. Donowitz, 2010, Gastroenterology.