Author pages are created from data sourced from our academic publisher partnerships and public sources.
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during… Expand
The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth.
- D. K. Rhee, J. Marcelino, +8 authors J. Carpten
- Chemistry, Medicine
- The Journal of clinical investigation
- 1 March 2005
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… Expand
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
- L. van Wesenbeeck, E. Cleiren, +11 authors W. Van Hul
- Biology, Medicine
- American journal of human genetics
- 1 March 2003
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,… Expand
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor β superfamily of signalling proteins (TGFβ-FMs), such as BMP4 (ref. 1). By… Expand
CRL4B catalyzes H2AK119 monoubiquitination and coordinates with PRC2 to promote tumorigenesis.
We reported that Cullin4B-Ring E3 ligase complex (CRL4B) is physically associated with Polycomb-repressive complex 2 (PRC2). We showed that CRL4B possesses an intrinsic transcription repressive… Expand
MiR‐182 overexpression in tumourigenesis of high‐grade serous ovarian carcinoma
Molecular pathogenesis of high‐grade serous ovarian carcinoma (HG‐SOC) is poorly understood. Recent recognition of HG‐SOC precursor lesions, defined as serous tubal intraepithelial carcinoma (STIC)… Expand
EDA Gene Mutations Underlie Non-syndromic Oligodontia
Recent studies have detected mutations in the EDA gene, previously identified as causing X-linked hypohidrotic ectodermal dysplasia (XLHED), in two families with X-linked non-syndromic hypodontia.… Expand
Characterization of Nuclear Localization Signal in the N Terminus of CUL4B and Its Essential Role in Cyclin E Degradation and Cell Cycle Progression*
CUL4A and CUL4B, which are derived from the same ancestor, CUL4, encode scaffold proteins that organize cullin-RING ubiquitin ligase (E3) complexes. Recent genetic studies have shown that germ line… Expand
Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.
We reevaluated a previously reported family with an X-linked mental retardation syndrome and attempted to identify the underlying genetic defect. Screening of candidate genes in a 10-Mb region on… Expand
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation
- X. Wang, Q. Xin, +12 authors Q. Liu
- Biology, Medicine
- European Journal of Human Genetics
- 1 September 2014
Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a… Expand