Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature.
Authors: Authors: Olney RC, Bükülmez H, Bartels CF, Prickett TC, Espiner EA, Potter LR, Warman ML.
J Clin Endocrinol Metab
View full abstract on Pubmed
J Clin Endocrinol Metab
View full abstract on Pubmed
Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.
Authors: Authors: Okajima K, Warman ML, Byrne LC, Kerr DS.
Mol Genet Metab
View full abstract on Pubmed
Mol Genet Metab
View full abstract on Pubmed
Hip joint replacement surgery for idiopathic osteoarthritis aggregates in families.
Authors: Authors: Bukulmez H, Matthews AL, Sullivan CM, Chen C, Kraay MJ, Elston RC, Moskowitz RW, Goldberg VM, Warman ML.
Arthritis Res Ther
View full abstract on Pubmed
Arthritis Res Ther
View full abstract on Pubmed
Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice.
Authors: Authors: Clément-Lacroix P, Ai M, Morvan F, Roman-Roman S, Vayssière B, Belleville C, Estrera K, Warman ML, Baron R, Rawadi G.
Proc Natl Acad Sci U S A
View full abstract on Pubmed
Proc Natl Acad Sci U S A
View full abstract on Pubmed
Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing.
Authors: Authors: Rhee DK, Marcelino J, Al-Mayouf S, Schelling DK, Bartels CF, Cui Y, Laxer R, Goldbach-Mansky R, Warman ML.
J Biol Chem
View full abstract on Pubmed
J Biol Chem
View full abstract on Pubmed
The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.
Authors: Authors: Jakkula E, Melkoniemi M, Kiviranta I, Lohiniva J, Räinä SS, Perälä M, Warman ML, Ahonen K, Kröger H, Göring HH, Ala-Kokko L.
Osteoarthritis Cartilage
View full abstract on Pubmed
Osteoarthritis Cartilage
View full abstract on Pubmed
Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling.
Authors: Authors: Ai M, Holmen SL, Van Hul W, Williams BO, Warman ML.
Mol Cell Biol
View full abstract on Pubmed
Mol Cell Biol
View full abstract on Pubmed
Association of articular cartilage degradation and loss of boundary-lubricating ability of synovial fluid following injury and inflammatory arthritis.
Authors: Authors: Elsaid KA, Jay GD, Warman ML, Rhee DK, Chichester CO.
Arthritis Rheum
View full abstract on Pubmed
Arthritis Rheum
View full abstract on Pubmed
The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth.
Authors: Authors: Rhee DK, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, Jay GD, Stewart M, Wang H, Warman ML, Carpten JD.
J Clin Invest
View full abstract on Pubmed
J Clin Invest
View full abstract on Pubmed
WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice.