Property Summary

NCBI Gene PubMed Count 34
Grant Count 41
R01 Count 27
Funding $3,734,896.11
PubMed Score 24.39
PubTator Score 206.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma -1.500 0.000
psoriasis -1.100 0.000
osteosarcoma 1.543 0.000
posterior fossa group B ependymoma 2.200 0.000
atypical teratoid / rhabdoid tumor 1.900 0.000
glioblastoma 1.200 0.000
medulloblastoma 1.100 0.000
medulloblastoma, large-cell 1.200 0.002
Atopic dermatitis -1.100 0.002
tuberculosis 2.700 0.000
pancreatic ductal adenocarcinoma liver m... -1.410 0.007
lung cancer -1.200 0.018
interstitial cystitis -1.200 0.000
lung carcinoma 1.200 0.000

Gene RIF (16)

PMID Text
26453840 Five novel mutations in BCKDHB were identified in MSUD patients.
26239723 we describe the presenting symptoms and clinical course of a Chinese boy with intermittent Intermittent maple syrup urine disease from BCKDHB gene mutation
23313820 Mutations in BCKDHB gene is associated with maple syrup urine disease.
22593002 BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19480318 In 37% (12 patients) of a total of 64 alleles, the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA gene, in 44% (14 patients) in the BCKDHB gene and in 19% (6 patients) in the DBT gene.
18378174 30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA, 5 in BCKDHB and 6 in DBT); 7 of are described for the first time.
17922217 in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT genes
17524396 Reconstructed haplotype from BCKDHB variants was associated with premature ovarian failure.
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AA Sequence

MAVVAAAAGWLLRLRAAGAEGHWRRLPGAGLARGFLHPAATVEDAAQRRQVAHFTFQPDPEPREYGQTQK      1 - 70
MNLFQSVTSALDNSLAKDPTAVIFGEDVAFGGVFRCTVGLRDKYGKDRVFNTPLCEQGIVGFGIGIAVTG     71 - 140
ATAIAEIQFADYIFPAFDQIVNEAAKYRYRSGDLFNCGSLTIRSPWGCVGHGALYHSQSPEAFFAHCPGI    141 - 210
KVVIPRSPFQAKGLLLSCIEDKNPCIFFEPKILYRAAAEEVPIEPYNIPLSQAEVIQEGSDVTLVAWGTQ    211 - 280
VHVIREVASMAKEKLGVSCEVIDLRTIIPWDVDTICKSVIKTGRLLISHEAPLTGGFASEISSTVQEECF    281 - 350
LNLEAPISRVCGYDTPFPHIFEPFYIPDKWKCYDALRKMINY                                351 - 392
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Text Mined References (39)

PMID Year Title
26453840 2015 Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
26239723 2015 Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
23400010 2014 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
23313820 2013 Molecular characterization of maple syrup urine disease patients from Tunisia.
22593002 2012 Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1? and E1?.
22326532 2012 Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).
21269460 2011 Initial characterization of the human central proteome.
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