An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)

scientific article published on 05 May 2016

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3) is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/AJMG.A.37680
P698PubMed publication ID27148679

P50authorMeena BalasubramanianQ46898860
Jerry K WalesQ57321479
Anne SlavotinekQ57489648
Fatih GürbüzQ60745152
P2093author name stringElisa De Franco
Doris Taha
Abdelhadi M Habeb
Jacob Hogue
Paul Dimitri
Khairya Moussa
Ambika Shetty
P2860cites workGLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functionsQ28591478
Expanding the Clinical Spectrum Associated With GLIS3 MutationsQ36129829
Glis3 regulates neurogenin 3 expression in pancreatic β-cells and interacts with its activator, Hnf6.Q36300219
Functional analysis of the zinc finger and activation domains of Glis3 and mutant Glis3(NDH1)Q36509279
Sustained expression of the transcription factor GLIS3 is required for normal beta cell function in adultsQ36602173
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.Q37080105
Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.Q37192105
Transcription factor Glis3, a novel critical player in the regulation of pancreatic beta-cell development and insulin gene expressionQ37452586
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi ArabiaQ46439948
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.Q48087598
P433issue7
P407language of work or nameEnglishQ1860
P304page(s)1918-1923
P577publication date2016-05-05
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleAn emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)
P478volume170

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cites work (P2860)
Q89083866Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features
Q49901335Congenital forms of diabetes: the beta-cell and beyond
Q88738703GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases
Q47147634Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network.

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