The WNT system: background and its role in bone

UH Lerner, C Ohlsson - Journal of internal medicine, 2015 - Wiley Online Library
WNT s are extracellular proteins that activate different cell surface receptors linked to
canonical and noncanonical WNT signalling pathways. The Wnt genes were originally …

Wnt signaling in osteoblasts and bone diseases

JJ Westendorf, RA Kahler, TM Schroeder - Gene, 2004 - Elsevier
Recent revelations that the canonical Wnt signaling pathway promotes postnatal bone
accrual are major advances in our understanding of skeletal biology and bring tremendous …

High bone density due to a mutation in LDL-receptor–related protein 5

LM Boyden, J Mao, J Belsky, L Mitzner… - … England Journal of …, 2002 - Mass Medical Soc
Background Osteoporosis is a major public health problem of largely unknown cause. Loss-
of-function mutations in the gene for low-density lipoprotein receptor–related protein 5 …

A mutation in the LDL receptor–related protein 5 gene results in the autosomal dominant high–bone-mass trait

RD Little, C Folz, SP Manning, PM Swain… - The American Journal of …, 2002 - cell.com
Osteoporosis is a complex disease that affects> 10 million people in the United States and
results in 1.5 million fractures annually. In addition, the high prevalence of osteopenia (low …

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

A Frattini, PJ Orchard, C Sobacchi, S Giliani… - Nature …, 2000 - nature.com
Osteopetrosis includes a group of inherited diseases in which inadequate bone resorption is
caused by osteoclast dysfunction. Although molecular defects have been described for …

High Bone Mass in Mice Expressing a Mutant LRP5 Gene

P Babij, W Zhao, C Small, Y Kharode… - Journal of Bone and …, 2003 - academic.oup.com
A unique mutation in LRP5 is associated with high bone mass in man. Transgenic mice
expressing this LRP5 mutation have a similar phenotype with high bone mass and …

Molecular cloning and characterization of a new multispecific organic anion transporter from rat brain

H Kusuhara, T Sekine, N Utsunomiya-Tate… - Journal of Biological …, 1999 - ASBMB
A cDNA encoding the new member of the multispecific organic anion transporter family,
OAT3, was isolated by the reverse transcription-polymerase chain reaction cloning method …

Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

U Kornak, A Schulz, W Friedrich… - Human molecular …, 2000 - academic.oup.com
Although the gene defects for several mouse mutants with severe osteopetrosis are known,
the genes underlying human infantile malignant recessive osteopetrosis remain elusive …

[PDF][PDF] Role of genetic factors in the pathogenesis of osteoporosis

TL Stewart, SH Ralston - Journal of Endocrinology, 2000 - Citeseer
Osteoporosis is a common disease with a strong genetic component characterised by low
bone mass, microarchitectural deterioration of bone tissue and an increased risk of fracture …

Impaired organic anion transport in kidney and choroid plexus of organic anion transporter 3 (Oat3 (Slc22a8)) knockout mice

DH Sweet, DS Miller, JB Pritchard, Y Fujiwara… - Journal of Biological …, 2002 - ASBMB
To begin to develop in vivo model systems for the assessment of the contributions of specific
organic anion transporter (OAT) family members to detoxification, development, and …