SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly

(2020) Peiwen Xu et al.   Frontiers in Genetics

The extracellular matrix in development

(2020) David A. Cruz Walma et al.   DEVELOPMENT

Whole-genome sequencing of patients with rare diseases in a national health system

(2020) Ernest Turro et al.   NATURE

Genotype–phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders

(2019) Narin Intarak et al.   MOLECULAR GENETICS AND GENOMICS

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

(2019) Dorota Monies et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BMP4 mutations in tooth agenesis and low bone mass

(2019) Miao Yu et al.   ARCHIVES OF ORAL BIOLOGY

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

(2019) Michael T. Lam et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing

(2019) Thais Kataoka Homma et al.   JOURNAL OF PEDIATRICS

Identification of the effector domain of biglycan that facilitates BMP-2 osteogenic function

(2018) Prapaporn Jongwattanapisan et al.   Scientific Reports

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

(2018) Peter Bauer et al.   GENETICS IN MEDICINE

Ca2+coordination controls sonic hedgehog structure and its Scube2-regulated release

(2017) Petra Jakobs et al.   JOURNAL OF CELL SCIENCE

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

(2016) Elisabetta Flex et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Endothelial SCUBE2 Interacts With VEGFR2 and Regulates VEGF-Induced AngiogenesisHighlights

(2016) Yuh-Charn Lin et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

BMP signalling in skeletal development, disease and repair

(2016) Valerie S. Salazar et al.   Nature Reviews Endocrinology

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Disruption ofScube2Impairs Endochondral Bone Formation

(2015) Yuh-Charn Lin et al.   JOURNAL OF BONE AND MINERAL RESEARCH

BMP signalling: agony and antagony in the family

(2015) Derek P. Brazil et al.   TRENDS IN CELL BIOLOGY

SCUBE3 (Signal Peptide-CUB-EGF Domain-containing Protein 3) Modulates Fibroblast Growth Factor Signaling during Fast Muscle Development

(2014) Cheng-Fen Tu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Remodelling the extracellular matrix in development and disease

(2014) Caroline Bonnans et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Scube regulates synovial angiogenesis-related signaling

(2013) Min Yang et al.   MEDICAL HYPOTHESES

Scube3 Is Expressed in Multiple Tissues during Development but Is Dispensable for Embryonic Survival in the Mouse

(2013) Guilherme M. Xavier et al.   PLoS One

Dispatched and Scube Mediate the Efficient Secretion of the Cholesterol-Modified Hedgehog Ligand

(2012) Hanna Tukachinsky et al.   Cell Reports

New insights on the roles of BMP signaling in bone-A review of recent mouse genetic studies

(2011) Nobuhiro Kamiya et al.   BIOFACTORS

Domain and Functional Analysis of a Novel Breast Tumor Suppressor Protein, SCUBE2

(2011) Yuh-Charn Lin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SCUBE3 is an endogenous TGF-β receptor ligand and regulates the epithelial-mesenchymal transition in lung cancer

(2011) Y-Y Wu et al.   ONCOGENE

EP1−/− mice have enhanced osteoblast differentiation and accelerated fracture repair

(2010) Minjie Zhang et al.   JOURNAL OF BONE AND MINERAL RESEARCH

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Isolation and characterization of a secreted, cell-surface glycoprotein SCUBE2 from humans

(2009) Ming-Tzu Tsai et al.   BIOCHEMICAL JOURNAL

Lattices, rafts, and scaffolds: domain regulation of receptor signaling at the plasma membrane

(2009) Patrick Lajoie et al.   JOURNAL OF CELL BIOLOGY

The Extracellular Matrix: Not Just Pretty Fibrils

(2009) R. O. Hynes   SCIENCE

Indian hedgehog signals independently of PTHrP to promote chondrocyte hypertrophy

(2008) K. K. Mak et al.   DEVELOPMENT

Domain and Functional Analysis of a Novel Platelet-Endothelial Cell Surface Protein, SCUBE1

(2008) Cheng-Fen Tu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY