Medical Knowledge Cockpit autism

PTEN

• The biology and clinical relevance of the PTEN tumor suppressor pathway
• Protean PTEN: form and function
• 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
• Disruption of PTEN coupling with 5-HT2C receptors suppresses behavioral responses induced by drugs of abuse
• Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers

CNTNAP2

• The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35
• Caspr3 and caspr4, two novel members of the caspr family are expressed in the nervous system and interact with PDZ domains

SHANK2

• Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development
• ProSAP/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease
• The Shank family of postsynaptic density proteins interacts with and promotes synaptic accumulation of the beta PIX guanine nucleotide exchange factor for Rac1 and Cdc42

NLGN3

• The structure and expression of the human neuroligin-3 gene

MECP2

• Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation
• The odyssey of MeCP2 and parental imprinting
• The solution structure of the domain from MeCP2 that binds to methylated DNA

CHD8

• The WW domain-containing proteins interact with the early spliceosome and participate in pre-mRNA splicing in vivo
• CTCF-dependent chromatin insulator is linked to epigenetic remodeling
• A probability-based approach for high-throughput protein phosphorylation analysis and site localization

EIF4E

• Functional interaction between RAFT1/FRAP/mTOR and protein kinase cdelta in the regulation of cap-dependent initiation of translation
• Regulation of 4E-BP1 phosphorylation: a novel two-step mechanism
• Structural and thermodynamic behavior of eukaryotic initiation factor 4E in supramolecular formation with 4E-binding protein 1 and mRNA cap analogue, studied by spectroscopic methods
• Fed-state clamp stimulates cellular mechanisms of muscle protein anabolism and modulates glucose disposal in normal men

RPL10

• Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides
• Isolation and characterization of the QM promoter

RPL10

Somatic tumors

T-ALL

Tumor types germline

Cancer Syndrom

Translocation partner

Name

ribosomal protein L10

Chromosome banding

Xq28

Cancer molecular gen.

Dom

Mutation type

Mis

Other syndrome disease

• Glioma
  Homo sapiens (human) one gene

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• Endometrial cancer
  Homo sapiens (human) one gene

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• Pathways in cancer
  Homo sapiens (human) one gene

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• Hepatitis B
  Homo sapiens (human) one gene

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