Matthew L. Warman

The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling. (2007)

Nakamura, Yukio, Weidinger, Gilbert, Liang, Jennifer O., Aquilina-Beck, Allisan, Tamai, Keiko, Moon, Randall T., ...

In humans, loss-of-function mutations in the gene encoding Wnt1 inducible signaling pathway protein 3 (WISP3) cause the autosomal-recessive skeletal disorder progressive pseudorheumatoid dysplasia...

The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. (2005)

Rhee, David K., Marcelino, Jose, Baker, MacArthur, Gong, Yaoqin, Smits, Patrick, Lefebvre, V Ronique, ...

The long-term integrity of an articulating joint is dependent upon the nourishment of its cartilage component and the protection of the cartilage surface from friction-induced wear. Loss-of-function...

WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice. (2005)

Kutz, Wendy E., Gong, Yaoqin, Warman, Matthew L.

In humans, loss-of-function mutations in WISP3 cause the autosomal recessive skeletal disease progressive pseudorheumatoid dysplasia (PPD) (Online Mendelian Inheritance in Man database number...

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux (2004)

Bartels,Cynthia F., Bükülmez,Hülya, Padayatti,Pius, Rhee,David K., Van Ravenswaaij-Arts,Conny, Pauli,Richard M., ...

The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding...

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux (2004)

Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., Pauli, Richard M., ...

The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding...

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. (2004)

Bartels, Cynthia F., B K Lmez, H Lya, Padayatti, Pius, Rhee, David K., Pauli, Richard M., ...

The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding...

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. (2003)

Van Wesenbeeck, Liesbeth, Cleiren, Erna, Gram, Jeppe, Beals, Rodney K., B Nichou, Olivier, Scopelliti, Domenico, ...

Bone is a dynamic tissue that is subject to the balanced processes of bone formation and bone resorption. Imbalance can give rise to skeletal pathologies with increased bone density. In recent years,...

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). (2002)

Brouillard, Pascal, Boon, Laurence M., Mulliken, John B., Enjolras, Odile, Ghassib , Michella, Warman, Matthew L., ...

Glomuvenous malformations (GVMs) are cutaneous venous lesions characterized by the presence of smooth-muscle--like glomus cells in the media surrounding distended vascular lumens. We have shown that...

Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding. (2001)

Marcelino, Jose, Sciortino, Christopher M., Romero, Michael F., Ulatowski, Lynn M., Ballock, R. Tracy, Economides, Aris N., ...

Secreted noggin protein regulates bone morphogenetic protein activity during development. In mice, a complete loss of noggin protein leads to multiple malformations including joint fusion, whereas...

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. (2000)

Melkoniemi, Miia, Brunner, Han G., Manouvrier, Sylvie, Hennekam, Raoul, Superti-Furga, Andrea, K Ri Inen, Helena, ...

Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied by severe hearing loss. The phenotype overlaps that of the autosomal dominant disorders-Stickler...

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. (1999)

Annunen, Susanna, K Rkk , Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., K Ri Inen, Helena, ...

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these...

A member of a family of sulfate-activating enzymes causes murine brachymorphism. (1998)

Kurima, Kiyoto, Warman, Matthew L., Krishnan, Srinivasan, Domowicz, Miriam, Krueger, Richard C., Deyrup, Andrea, ...

Sulfation is critical to the function of a wide variety of biomolecules. This common modification requires the enzymatic synthesis of an activated sulfate donor, phosphoadenosine-phosphosulfate...

A member of a family of sulfate-activating enzymes causes murine brachymorphism

Kurima, Kiyoto, Warman, Matthew L., Krishnan, Srinivasan, Domowicz, Miriam, Krueger, Richard C., Deyrup, Andrea, ...

Sulfation is critical to the function of a wide variety of biomolecules. This common modification requires the enzymatic synthesis of an activated sulfate donor, phosphoadenosine-phosphosulfate...

Human disease-causing NOG missense mutations: Effects on noggin secretion, dimer formation, and bone morphogenetic protein binding

Marcelino, Jose, Sciortino, Christopher M., Romero, Michael F., Ulatowski, Lynn M., Ballock, R. Tracy, Economides, Aris N., ...

Secreted noggin protein regulates bone morphogenetic protein activity during development. In mice, a complete loss of noggin protein leads to multiple malformations including joint fusion, whereas...

WISP3, the Gene Responsible for the Human Skeletal Disease Progressive Pseudorheumatoid Dysplasia, Is Not Essential for Skeletal Function in Mice

Kutz, Wendy E., Gong, Yaoqin, Warman, Matthew L.

In humans, loss-of-function mutations in WISP3 cause the autosomal recessive skeletal disease progressive pseudorheumatoid dysplasia (PPD) (Online Mendelian Inheritance in Man database number...

The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth

Rhee, David K., Marcelino, Jose, Baker, MacArthur, Gong, Yaoqin, Smits, Patrick, Lefebvre, Véronique, ...

The long-term integrity of an articulating joint is dependent upon the nourishment of its cartilage component and the protection of the cartilage surface from friction-induced wear. Loss-of-function...

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

Ai, Minrong, Holmen, Sheri L., Van Hul, Wim, Williams, Bart O., Warman, Matthew L.

The low-density-lipoprotein receptor-related protein 5 (LRP5), a coreceptor in the canonical Wnt signaling pathway, has been implicated in human disorders of low and high bone mass. Loss-of-function...

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Annunen, Susanna, Körkkö, Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., Kääriäinen, Helena, ...

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these...

Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice

Clément-Lacroix, Philippe, Ai, Minrong, Morvan, Frederic, Roman-Roman, Sergio, Vayssière, Béatrice, Belleville, Cecille, ...

One of the well characterized cell biologic actions of lithium is the inhibition of glycogen synthase kinase-3β and the consequent activation of canonical Wnt signaling. Because deficient Wnt...

A member of a family of sulfate-activating enzymes causes murine brachymorphism

Kurima, Kiyoto, Warman, Matthew L., Krishnan, Srinivasan, Domowicz, Miriam, Krueger, Richard C., Deyrup, Andrea, ...

Sulfation is critical to the function of a wide variety of biomolecules. This common modification requires the enzymatic synthesis of an activated sulfate donor, phosphoadenosine-phosphosulfate...

Human disease-causing NOG missense mutations: Effects on noggin secretion, dimer formation, and bone morphogenetic protein binding

Marcelino, Jose, Sciortino, Christopher M., Romero, Michael F., Ulatowski, Lynn M., Ballock, R. Tracy, Economides, Aris N., ...

Secreted noggin protein regulates bone morphogenetic protein activity during development. In mice, a complete loss of noggin protein leads to multiple malformations including joint fusion, whereas...

Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations (“Glomangiomas”)

Brouillard, Pascal, Boon, Laurence M., Mulliken, John B., Enjolras, Odile, Ghassibé, Michella, Warman, Matthew L., ...

Glomuvenous malformations (GVMs) are cutaneous venous lesions characterized by the presence of smooth-muscle–like glomus cells in the media surrounding distended vascular lumens. We have shown that...

WISP3, the Gene Responsible for the Human Skeletal Disease Progressive Pseudorheumatoid Dysplasia, Is Not Essential for Skeletal Function in Mice

Kutz, Wendy E., Gong, Yaoqin, Warman, Matthew L.

In humans, loss-of-function mutations in WISP3 cause the autosomal recessive skeletal disease progressive pseudorheumatoid dysplasia (PPD) (Online Mendelian Inheritance in Man database number...

The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth

Rhee, David K., Marcelino, Jose, Baker, MacArthur, Gong, Yaoqin, Smits, Patrick, Lefebvre, Véronique, ...

The long-term integrity of an articulating joint is dependent upon the nourishment of its cartilage component and the protection of the cartilage surface from friction-induced wear. Loss-of-function...

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

Ai, Minrong, Holmen, Sheri L., Van Hul, Wim, Williams, Bart O., Warman, Matthew L.

The low-density-lipoprotein receptor-related protein 5 (LRP5), a coreceptor in the canonical Wnt signaling pathway, has been implicated in human disorders of low and high bone mass. Loss-of-function...

Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 (LRP5) Gene in Different Conditions with an Increased Bone Density

Van Wesenbeeck, Liesbeth, Cleiren, Erna, Gram, Jeppe, Beals, Rodney K., Bénichou, Olivier, Scopelliti, Domenico, ...

Bone is a dynamic tissue that is subject to the balanced processes of bone formation and bone resorption. Imbalance can give rise to skeletal pathologies with increased bone density. In recent years,...

Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., Van Ravenswaaij-Arts, Conny, Pauli, Richard M., ...

The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding...

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Annunen, Susanna, Körkkö, Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., Kääriäinen, Helena, ...

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these...

Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice

Clément-Lacroix, Philippe, Ai, Minrong, Morvan, Frederic, Roman-Roman, Sergio, Vayssière, Béatrice, Belleville, Cecille, ...

One of the well characterized cell biologic actions of lithium is the inhibition of glycogen synthase kinase-3β and the consequent activation of canonical Wnt signaling. Because deficient Wnt...

Genetic Mapping of a Locus for Multiple Epiphyseal Dysplasia (EDM2) to a Region of Chromosome 1 Containing a Type IX Collagen Gene

Briggs, Michael D., Choi, HiChang, Warman, Matthew L., Loughlin, John A., Wordsworth, Paul, Sykes, Bryan C., ...

Multiple epiphyseal dysplasia (MED) is a dominantly inherited chondrodysplasia characterized by mild short stature and early-onset osteoarthrosis. Some forms of MED clinically resemble another...

The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling

Nakamura, Yukio, Weidinger, Gilbert, Liang, Jennifer O., Aquilina-Beck, Allisan, Tamai, Keiko, Moon, Randall T., ...

In humans, loss-of-function mutations in the gene encoding Wnt1 inducible signaling pathway protein 3 (WISP3) cause the autosomal-recessive skeletal disorder progressive pseudorheumatoid dysplasia...