COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
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DOI: 10.1007/s00439-019-02042-4
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~ 45%) that manifests before 30 years of age. The genetic locus containing COL4A1 (13q33–34) has been implicated in… read more here.
Keywords: potential novel; cause; col4a1 mutations; cakut ... See more keywords
Germline mutations as potential causes of childhood solid tumours: comments on the Norwegian childhood cancer cohort study
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DOI: 10.1038/s41416-018-0059-0
Abstract: Some cancer predisposing germline mutations cause overt birth defects and congenital anomalies. Others are clinically silent and can only be suspected by the presence of increased cancer incidence in family members. A new study shows… read more here.
Keywords: childhood; study; mutations potential; potential causes ... See more keywords
Abstract 970: Transforming NTRK2 and NTRK3 mutations as potential drivers of leukemia
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DOI: 10.1158/1538-7445.am2018-970
Abstract: The neurotrophic tyrosine receptor kinases (NTRKs) are a family of neuronal transmembrane receptors that signal through several pathways including JAK/STAT, PI3K/AKT, and MEK/ERK to promote proliferation, differentiation, and survival. Although much of the literature has… read more here.
Keywords: ntrk3 mutations; ntrk2 ntrk3; mutations potential; potential drivers ... See more keywords