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GENE:

BBS9 (Bardet-Biedl Syndrome 9)

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Other names: BBS9, Bardet-Biedl Syndrome 9, PTHB1, B1, Parathyroid Hormone-Responsive B1 Gene Protein, Bardet-Biedl Syndrome 9 Protein, Protein PTHB1, Parathyroid Hormone Responsive B1 Gene, PTH-Responsive Osteosarcoma B1 Protein, C18, D1
Associations
Trials
7ms
Genetic characteristics of primary bone marrow large B-cell lymphoma. (PubMed, Pathol Res Pract)
Clinicopathological characteristics, including hemophagocytic lymphohistiocytosis (HLH), hepatosplenomegaly, International Prognostic Index (IPI) score, treatment with chemotherapy plus rituximab, CD5 expression, histopathological patterns, germinal center B-cell-like subtype and follow-up duration, did not differ significantly between the two groups...BTG1 mutation is associated with adverse outcomes, highlighting their potential as prognostic biomarkers or therapeutic targets. These findings advance our understanding of the molecular landscape and prognostic stratification of PBM-LBCL.
Journal
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KMT2D (Lysine Methyltransferase 2D) • FAT1 (FAT atypical cadherin 1) • CD5 (CD5 Molecule) • APOB (Apolipoprotein B) • BTG1 (BTG Anti-Proliferation Factor 1) • IL16 (Interleukin 16) • ZFHX4 (Zinc Finger Homeobox 4) • BBS9 (Bardet-Biedl Syndrome 9)
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Rituxan (rituximab)
1year
Genetic analysis for diagnosing local recurrence of sigmoid colon cancer mimicking a small intestinal tumor: a case report. (PubMed, World J Surg Oncol)
The present case highlights the practical application of genetic analysis in clinical practice, particularly when clinical diagnosis and histopathological findings are inconclusive or conflicting.
Journal
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KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BBS9 (Bardet-Biedl Syndrome 9)
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KRAS mutation • PIK3CA mutation
over2years
Changes to primary cilium composition of BBS genes in response to Hydrogen peroxide mediated oxidative stress and primary cilium influenced cell migration. (EACR 2023)
The stimulus also reduces migratory capacity of mesothelial and mesothelioma cells. Primary cilium inhibition or expansion severely disrupts cell migration during Hydrogen peroxide mediated oxidative stress in both cell types.
Oxidative stress
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BBS9 (Bardet-Biedl Syndrome 9)