Associated Papers
Mutations that prevent phosphorylation of the BMP4 prodomain impair proteolytic maturation of homodimers leading to lethality in mice.
Kim HS et al.
Elife, 2025
Mutations that prevent phosphorylation of the BMP4 prodomain impair proteolytic maturation of homodimers leading to lethality in mice.
Kim HS et al.
Biorxiv : the Preprint Server for Biology, 2025
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N et al.
Frontiers in Molecular Biosciences, 2020
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.
Nixon TRW et al.
European Journal of Human Genetics : Ejhg, 2019
Analysis of BMP4 (rs121912765) polymorphism in Iranian women with history of recurrent spontaneous abortion: A case-control study.
Mazdapour M et al.
Biomedical Reports, 2019
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Reis LM et al.
Human Genetics, 2011
Evaluation of germline BMP4 mutation as a cause of colorectal cancer.
Lubbe SJ et al.
Human Mutation, 2011
Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
Zhang X et al.
Molecular Vision, 2009
Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly.
Hayashi S et al.
American Journal of Medical Genetics. Part A, 2008
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
Bakrania P et al.
American Journal of Human Genetics, 2008
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