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Browsing by Author "Nassif Najah"

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Alterations of the Birt-Hogg-Dube gene (BHD) in sporadic colorectal tumours

Nassif Najah; Lobo Glenn; Chen Jin Dong; Khoo Sok; Kahnoski Katherine; Segelov Eva; Teh Bin (BMJ Publishing Group Ltd, 2003)

Colorectal cancer (CRC) is the third most common cancer diagnosed in both men and women, and the second most common cause of cancer deaths in the United States. There were approximately 150 000 new cases resulting in 57 ...
Association of SLC11A1 promoter polymorphisms with the incidence of autoimmune and inflammatory diseases: A meta-analysis

O'Brien Bronwyn; Archer Nicholas; Simpson Ann; Torpy Fraser; Nassif Najah (Academic Press Ltd Elsevier Science Ltd, 2008)

Solute carrier family 11 member a1 (SLC11A1) exerts pleiotropic effects on macrophage function. Expression of SLC11A1 is regulated by a (GT)(n) microsatellite promoter repeat polymorphism of which nine alleles have been ...
Frequent loss of heterozygosity targeting the inactive X chromosome in melanoma

Nassif Najah; Indsto James O; Mann Graham; Kefford Richard (American Society for Testing and Materials, 2005)

After previous preliminary observations of paradoxical deletion events affecting the inactive X chromosome in melanoma, we have surveyed the X chromosome for deletions using 23 polymorphic microsatellite markers in 28 ...
Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function

Lobo Glenn; Waite Kristin; Planchon Planchon; Todd Romigh; Nassif Najah; Eng Charis (Oxford Journals, 2009)

Germline and somatic PTEN mutations are found in Cowden syndrome (CS) and multiple sporadic malignancies, respectively. PTEN function appears to be modulated by subcellular compartmentalization, and mislocalization may ...
Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

Waite Kristin; Pilarski Robert; Fernandez Magali; Zhou Xiao-Ping; Hampel Heather; Bos Cindy; Dasouki Majed; Feldman Gerald; Greenberg Lois; Ivanovich Jennifer; Matloff Ellen; Patterson Annette; Pierpont Mary; Russo Donna; Nassif Najah; Eng Charis (American Society of Human Genetics, 2003)

Germline intragenic mutations in PTEN are associated with 80% of patients with Cowden syndrome (CS) and 60% of patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). The underlying genetic causes remain to be determined ...
Long-term Correction Of Diabetes In Rats After Lentiviral Hepatic Insulin Gene Therapy

Ren Binhai; O'Brien Bronwyn; Swan M; Koina Mark; Nassif Najah; Wei Ming; Simpson Ann (Springer, 2007)
Partial forensic validation of a 16plex SNP assay for the inference of biogeographical ancestry

Daniel Runa; Sanchez Juan; Nassif Najah; Hernandez Alexis; Walsh Simon (Elsevier, 2009)

A partial forensic validation study demonstrated the suitability of an ancestry informative 16 locus SNP assay to forensic casework.
PTEN mutations are common in sporadic microsatellite stable colorectal cancer

Nassif Najah; Lobo Glenn; Wu Xiaojuan; Henderson Christopher; Morrison Carl; Eng Charis; Jalaludin Bin; Segelov Eva (Nature Publishing Group, 2004)

The tumour suppressor gene PTEN, located at chromosome sub-band 10q23.3, encodes a dual-specificity phosphatase that negatively regulates the phosphatidylinositol 3'-kinase (PI3 K)/Akt-dependent cellular survival pathway. ...
SNPs associated with physical traits: A valuable tool for the inference of biogeographical ancestry

Daniel Runa; Sanchez Juan; Nassif Najah; Hernandez Alexis; Walsh Simon (Elsevier, 2008)

Sixteen autosomal SNPs were selected to differentiate major populations in Australia. A SNP multiplex assay was developed for the inference of biogeographical ancestry.

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Browsing by Author "Nassif Najah"

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