Associated Papers
Effectiveness of expanded prenatal screening among consanguineous couples of Afghan descent.
Osman N et al.
Ajog Global Reports, 2025
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features.
Yilmaz Gulec E et al.
Molecular Syndromology, 2022
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type.
Gupta N et al.
Journal of Pediatric Genetics, 2019
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.
Ürel-Demir G et al.
Journal of Human Genetics, 2018
Incorporation of DDR2 clusters into collagen matrix via integrin-dependent posterior remnant tethering.
Li T et al.
International Journal of Biological Sciences, 2018
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Mansouri M et al.
American Journal of Medical Genetics. Part A, 2016
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
McDonell LM et al.
Human Molecular Genetics, 2015
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.
Al-Kindi A et al.
Bmc Medical Genetics, 2014
Collagen recognition and transmembrane signalling by discoidin domain receptors.
Carafoli F et al.
Biochimica Et Biophysica Acta, 2013
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.
Ali BR et al.
Human Molecular Genetics, 2010
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