Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder.

We report a patient who presented with congenital hypotonia, hypoventilation, and cerebellar histopathological alterations. Exome analysis revealed a homozygous mutation in the initiation codon of the gene, which encodes an NDP kinase. The initiation-codon mutation leads to deficiency in NME3 protein expression.

Expression of heparanase in soft tissue sarcomas of adults.

Background: Heparanase is an endo-β-D-glucuronidase that cleaves heparan sulfate chains of proteoglycans, resulting in the disassembly of the extracellular matrix. Heparanase has a central role in the development of various tumors, and its expression has been associated with increased tumor growth, angiogenesis and metastasis, but there is insufficient information about the function of heparanase in sarcomas.

Study Aims: 1) To evaluate heparanase levels in adult soft tissue sarcomas (STS); 2) To examine the correlation between heparanase levels and pathological and clinical parameters and treatment outcome.

Invasive ductal carcinoma within fibroadenoma and lung metastases.

Fibroadenomas are one of the most common benign tumors of the breast. Malignant transformation from fibroadenoma to cancer is rare. We present a case of an invasive ductal carcinoma within an otherwise benign fibroadenoma with lung metastasis in a 69-year-old woman.

Involvement of Heparanase in early pregnancy losses.

Background: Heparanase cloned from and abundant in the placenta is implicated in cell invasion, tumor angiogenesis and metastasis. Recently, we demonstrated that heparanase is involved in the regulation of the hemostatic system. Heparanase was found to up-regulate tissue factor (TF) expression (Nadir et al.