Published in J Clin Invest on August 25, 2005
TGF-β and BMP signaling in osteoblast differentiation and bone formation. Int J Biol Sci (2012) 3.49
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81
The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization. J Clin Invest (2009) 2.18
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet (2009) 2.09
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet (2006) 1.85
TGF-beta signaling is essential for joint morphogenesis. J Cell Biol (2007) 1.51
Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet (2010) 1.35
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet (2007) 1.31
A silent H-bond can be mutationally activated for high-affinity interaction of BMP-2 and activin type IIB receptor. BMC Struct Biol (2007) 1.25
Brachydactyly. Orphanet J Rare Dis (2008) 1.25
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. Am J Hum Genet (2010) 1.24
GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet (2006) 1.24
Unique SMAD1/5/8 activity at the phalanx-forming region determines digit identity. Proc Natl Acad Sci U S A (2008) 1.21
Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity. EMBO J (2009) 1.13
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. J Clin Invest (2008) 1.09
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. PLoS Genet (2009) 1.09
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. Nature (2009) 1.06
Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation. J Clin Invest (2010) 1.00
BMP signalling in skeletal development, disease and repair. Nat Rev Endocrinol (2016) 0.97
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family. BMC Med Genet (2008) 0.88
TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease. Bone Res (2016) 0.88
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family. Hum Genet (2013) 0.87
Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5. J Bone Miner Metab (2008) 0.86
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. PLoS Genet (2013) 0.86
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. Eur J Hum Genet (2013) 0.84
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. Am J Med Genet A (2010) 0.83
TGF-β signal transduction pathways and osteoarthritis. Rheumatol Int (2015) 0.82
GDF-5 can act as a context-dependent BMP-2 antagonist. BMC Biol (2015) 0.81
Cushing proximal symphalangism and the NOG and GDF5 genes. Pediatr Radiol (2007) 0.80
Delayed fracture healing in growth differentiation factor 5-deficient mice: a pilot study. Clin Orthop Relat Res (2011) 0.80
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant. Hum Mol Genet (2014) 0.80
Biomimetic approaches to complex craniofacial defects. Ann Maxillofac Surg (2015) 0.78
Classification and surgical treatment of symphalangism in interphalangeal joints of the hand. Clin Orthop Surg (2012) 0.77
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. Eur J Hum Genet (2015) 0.77
Expression and functional study of extracellular BMP antagonists during the morphogenesis of the digits and their associated connective tissues. PLoS One (2013) 0.77
Purification, crystallization and preliminary data analysis of the ligand-receptor complex of the growth and differentiation factor 5 variant R57A (GDF5R57A) and BMP receptor IA (BRIA). Acta Crystallogr Sect F Struct Biol Cryst Commun (2011) 0.76
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family. Mol Syndromol (2014) 0.76
Squamous cell carcinoma in combination with a symbrachydactyly: initial management and long-term followup. Case Rep Orthop (2014) 0.75
A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal. J Bone Miner Res (2015) 0.75
Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family. World J Orthop (2016) 0.75
Signaling networks in joint development. Dev Dyn (2016) 0.75
Activin receptor-like kinases: a diverse family playing an important role in cancer. Am J Cancer Res (2016) 0.75
GDF5 Mediated Enhancement of Chondrocyte Phenotype is Inhibited by Heparin; Implication for the use of Heparin in the Clinic and in Tissue Engineering Applications. Tissue Eng Part A (2016) 0.75
Genetics of Short Stature. Endocrinol Metab Clin North Am (2017) 0.75
Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). PLoS One (2014) 0.75
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? J Hum Genet (2015) 0.75
Heads, Shoulders, Elbows, Knees, and Toes: Modular Gdf5 Enhancers Control Different Joints in the Vertebrate Skeleton. PLoS Genet (2016) 0.75
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. Ann Lab Med (2013) 0.75
Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk. Nat Genet (2017) 0.75
The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acids Res (1997) 175.36
UCSF Chimera--a visualization system for exploratory research and analysis. J Comput Chem (2004) 112.47
Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Cell (2003) 25.94
Enhanced genome annotation using structural profiles in the program 3D-PSSM. J Mol Biol (2000) 10.87
Controlling TGF-beta signaling. Genes Dev (2000) 8.13
Adaptor plasmids simplify the insertion of foreign DNA into helper-independent retroviral vectors. J Virol (1987) 6.88
Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. Science (1998) 4.72
Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily. Nature (1994) 3.99
CHROMA: consensus-based colouring of multiple alignments for publication. Bioinformatics (2001) 3.30
Extracellular regulation of BMP signaling in vertebrates: a cocktail of modulators. Dev Biol (2002) 3.13
The mode of bone morphogenetic protein (BMP) receptor oligomerization determines different BMP-2 signaling pathways. J Biol Chem (2001) 2.59
Distinct roles of type I bone morphogenetic protein receptors in the formation and differentiation of cartilage. Genes Dev (1997) 2.59
Ectopic induction of tendon and ligament in rats by growth and differentiation factors 5, 6, and 7, members of the TGF-beta gene family. J Clin Invest (1997) 2.42
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat Genet (1997) 2.38
Divergence and convergence of TGF-beta/BMP signaling. J Cell Physiol (2001) 2.37
The type I BMP receptor BMPRIB is required for chondrogenesis in the mouse limb. Development (2000) 2.30
Role of Runx genes in chondrocyte differentiation. Dev Biol (2002) 2.12
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. Nat Genet (1996) 2.11
Bone morphogenetic protein receptor complexes on the surface of live cells: a new oligomerization mode for serine/threonine kinase receptors. Mol Biol Cell (2000) 2.08
Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet (1997) 2.06
Development of synovial joints. Birth Defects Res C Embryo Today (2003) 2.00
Human bone morphogenetic protein 2 contains a heparin-binding site which modifies its biological activity. Eur J Biochem (1996) 1.98
Mechanisms of GDF-5 action during skeletal development. Development (1999) 1.83
Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5. J Biol Chem (1996) 1.72
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet (1999) 1.67
Molecular recognition of BMP-2 and BMP receptor IA. Nat Struct Mol Biol (2004) 1.65
Combinatorial signaling through BMP receptor IB and GDF5: shaping of the distal mouse limb and the genetics of distal limb diversity. Development (2000) 1.62
BMP-2 antagonists emerge from alterations in the low-affinity binding epitope for receptor BMPR-II. EMBO J (2000) 1.55
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A (2003) 1.52
Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet (2003) 1.52
Molecular recognition in bone morphogenetic protein (BMP)/receptor interaction. Biol Chem (2004) 1.47
Loss of Bmp7 and Fgf8 signaling in Hoxa13-mutant mice causes hypospadia. Development (2003) 1.41
Bone morphogenetic protein-2 promotes osteoblast apoptosis through a Smad-independent, protein kinase C-dependent signaling pathway. J Biol Chem (2001) 1.38
BMP-2/-4 mediate programmed cell death in chicken limb buds. Development (1996) 1.36
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. Clin Genet (2001) 1.31
Expression and function of Gdf-5 during digit skeletogenesis in the embryonic chick leg bud. Dev Biol (1999) 1.28
Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis. J Bone Miner Res (1998) 1.20
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. Am J Hum Genet (2002) 1.16
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. Am J Med Genet A (2004) 1.16
Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. Am J Med Genet A (2003) 1.15
Cooperativity of binding epitopes and receptor chains in the BMP/TGFbeta superfamily. Biol Chem (2001) 1.13
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. Mech Dev (2002) 1.06
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. J Med Genet (2005) 1.05
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). Clin Genet (2002) 1.04
Cartilage-derived morphogenetic protein-1. Int J Biochem Cell Biol (1997) 1.02
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. Genet Med (2001) 1.00
Developmental failure of phalanges in the absence of growth/differentiation factor 5. Bone (2004) 0.85
Spinal fusion with recombinant human growth and differentiation factor-5 combined with a mineralized collagen matrix. Anat Rec (2001) 0.85
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet (2008) 8.78
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. Genes Cells (2003) 4.11
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
Signal transduction of bone morphogenetic protein receptors. Cell Signal (2004) 3.11
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet (2009) 3.01
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med (2013) 2.91
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat (2008) 2.66
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet (2002) 2.65
The mode of bone morphogenetic protein (BMP) receptor oligomerization determines different BMP-2 signaling pathways. J Biol Chem (2001) 2.59
Recent advances in BMP receptor signaling. Cytokine Growth Factor Rev (2009) 2.57
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum Genet (2008) 2.55
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A (2006) 2.23
The highly conserved LepA is a ribosomal elongation factor that back-translocates the ribosome. Cell (2006) 2.19
The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization. J Clin Invest (2009) 2.18
Plant nitric oxide synthase: a never-ending story? Trends Plant Sci (2006) 2.12
Role of Runx genes in chondrocyte differentiation. Dev Biol (2002) 2.12
CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations. Neurogenetics (2007) 2.11
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet (2009) 2.09
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat (2008) 2.03
Different routes of bone morphogenic protein (BMP) receptor endocytosis influence BMP signaling. Mol Cell Biol (2006) 1.99
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Of flies, mice and men: a systematic approach to understanding the early life origins of chronic lung disease. Thorax (2012) 1.88
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Crystal structure analysis reveals how the Chordin family member crossveinless 2 blocks BMP-2 receptor binding. Dev Cell (2008) 1.82
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat (2002) 1.81
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet (2006) 1.79
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nat Genet (2009) 1.75
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
BMP signaling controls muscle mass. Nat Genet (2013) 1.68
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest (2005) 1.68
Molecular recognition of BMP-2 and BMP receptor IA. Nat Struct Mol Biol (2004) 1.65
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet (2012) 1.65
The other trinucleotide repeat: polyalanine expansion disorders. Curr Opin Genet Dev (2005) 1.62
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood (2013) 1.61
The death-domain fold of the ASC PYRIN domain, presenting a basis for PYRIN/PYRIN recognition. J Mol Biol (2003) 1.61
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet (2009) 1.59
Promiscuity and specificity in BMP receptor activation. FEBS Lett (2012) 1.58
Crossveinless 2 is an essential positive feedback regulator of Bmp signaling during zebrafish gastrulation. Development (2006) 1.57
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain (2014) 1.55
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res (2011) 1.53
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A (2003) 1.52
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. Pediatr Radiol (2004) 1.52
Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet (2003) 1.52
A single residue of GDF-5 defines binding specificity to BMP receptor IB. J Mol Biol (2005) 1.49
The SYSTERS Protein Family Database in 2005. Nucleic Acids Res (2005) 1.49
Molecular recognition in bone morphogenetic protein (BMP)/receptor interaction. Biol Chem (2004) 1.47
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet (2012) 1.46
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45
Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation. Gene Expr Patterns (2009) 1.43
Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva. J Biol Chem (2012) 1.43
Dysregulated bone morphogenetic protein signaling in monocrotaline-induced pulmonary arterial hypertension. Arterioscler Thromb Vasc Biol (2007) 1.43
Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation. Am J Med Genet A (2004) 1.43
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci U S A (2004) 1.42
BMPs: from bone to body morphogenetic proteins. Sci Signal (2010) 1.41
MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS One (2011) 1.41
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. J Exp Med (2013) 1.39
Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet (2013) 1.39
von Willebrand factor type C domain-containing proteins regulate bone morphogenetic protein signaling through different recognition mechanisms. J Biol Chem (2007) 1.38
A misplaced lncRNA causes brachydactyly in humans. J Clin Invest (2012) 1.36
Intricacies of BMP receptor assembly. Cytokine Growth Factor Rev (2009) 1.35
Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet (2010) 1.35
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet (2008) 1.34
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet (2006) 1.34
Female sex and estrogen receptor-beta attenuate cardiac remodeling and apoptosis in pressure overload. Am J Physiol Regul Integr Comp Physiol (2010) 1.32
Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development. Dev Dyn (2008) 1.30
Multiple roles for neurofibromin in skeletal development and growth. Hum Mol Genet (2007) 1.29
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet (2004) 1.29
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. J Clin Invest (2005) 1.29
p38 inhibitors prevent TGF-beta-induced myofibroblast transdifferentiation in human tenon fibroblasts. Invest Ophthalmol Vis Sci (2006) 1.28