Mutations in TJP2 cause progressive cholestatic liver disease

M Sambrotta, S Strautnieks, E Papouli, P Rushton… - Nature …, 2014 - nature.com
Elucidating genetic causes of cholestasis has proved to be important in understanding the
physiology and pathophysiology of the liver. Here we show that protein-truncating mutations …

Cellular apoptosis and proliferation in experimental renal fibrosis.

GL Thomas, B Yang, BE Wagner, J Savill… - … official publication of …, 1998 - academic.oup.com
BACKGROUND: The progression of chronic renal failure (CRF) is associated with the
progressive deletion of renal cells along with the fibrosis of the kidney. We have studied the …

De Barsy syndrome: a review of the phenotype

EC Kivuva, MJ Parker, MC Cohen… - Clinical …, 2008 - journals.lww.com
De Barsy syndrome is a rare, autosomal recessive syndrome characterised by a progeria-
like appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopaedic …

Differential effects of CD18, CD29, and CD49 integrin subunit inhibition on neutrophil migration in pulmonary inflammation

VC Ridger, BE Wagner, WAH Wallace… - The Journal of …, 2001 - journals.aai.org
Neutrophil migration to lung alveoli is a characteristic of lung diseases and is thought to
occur primarily via capillaries rather than postcapillary venules. The role of adhesion …

A comprehensive study of the association between hepatitis C virus and glomerulopathy

AA Sabry, MA Sobh, WL Irving… - Nephrology Dialysis …, 2002 - academic.oup.com
Abstract Background. Hepatitis C virus (HCV)‐related infection is commonly associated with
a wide range of glomerulonephritides (GN) including membranoproliferative …

Vascular histopathology and connective tissue ultrastructure in spontaneous coronary artery dissection: pathophysiological and clinical implications

M Margaritis, F Saini… - Cardiovascular …, 2022 - academic.oup.com
Aims Spontaneous coronary artery dissection (SCAD) is a cause of acute coronary
syndromes and in rare cases sudden cardiac death (SCD). Connective tissue abnormalities …

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

KA Metz, X Teng, I Coppens, HM Lamb… - Annals of …, 2018 - Wiley Online Library
Objective Several small case series identified KCTD7 mutations in patients with a rare
autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and …

Homophilic and heterophilic polycystin 1 interactions regulate E-cadherin recruitment and junction assembly in MDCK cells

AJ Streets, BE Wagner, PC Harris… - Journal of cell …, 2009 - journals.biologists.com
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited
human renal disease and is caused by mutations in two genes, PKD1 (85%) and PKD2 …

Effect of combination therapy (ribavirin and interferon) in HCV‐related glomerulopathy

AA Sabry, MA Sobh, HA Sheaashaa… - Nephrology Dialysis …, 2002 - academic.oup.com
Abstract Background. Hepatitis C virus (HCV) is a major cause of acute and chronic hepatitis
throughout the world. Several extrahepatic manifestations, including glomerulonephritis …

Genotype–phenotype study in type V osteogenesis imperfecta

M Balasubramanian, MJ Parker, A Dalton… - Clinical …, 2013 - journals.lww.com
Type V osteogenesis imperfecta (OI) presents with moderate-to-severe skeletal deformity
and is characterized by hyperplastic callus formation at fracture sites and calcification of the …