Property Summary

NCBI Gene PubMed Count 10
PubMed Score 11.19
PubTator Score 9.67

Knowledge Summary

Patent

No data available

Gene RIF (6)

PMID Text
26333411 Founder triplication of BHLHA9 is associated with femoral-tibial-digital malformations.
25466284 BHLHA9 is identified as an essential player in the regulatory network governing limb morphogenesis in humans.
25351291 this is the first study revealing the underlying genetic factor for the development of GWC, and demonstrating the presence of triplications involving BHLHA9
23790188 Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.
23035971 BHLHA9 gene contribute to the phenotype of small 17p13.3 chromosomal duplication in Miller-Dieker syndrome
22147889 Genomic duplications encompassing BHLHA9 are associated with SHFLD and non-Mendelian inheritance characterised by a high degree of non-penetrance with sex bias.

AA Sequence

MLRGAPGLGLTARKGAEDSAEDLGGPCPEPGGDSGVLGANGASCSRGEAEEPAGRRRARPVRSKARRMAA      1 - 70
NVRERKRILDYNEAFNALRRALRHDLGGKRLSKIATLRRAIHRIAALSLVLRASPAPRGPCGHLECHGPA     71 - 140
ARGDTGDTGASPPPPAGPSLARPDAARPSVPSAPRCASCPPHAPLARPSAVAEGPGLAQASGGSWRRCPG    141 - 210
ASSAGPPPWPRGYLRSAPGMGHPRS                                                 211 - 235
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Text Mined References (11)

PMID Year Title
26333411 2015 Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.
25466284 2014 Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
25351291 2014 Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
24874887 2014 Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
23790188 2014 Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.
23035971 2012 Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
22147889 2012 Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
18557763 2008 Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
14516699 2002 Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening.
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