Results 91 to 100 of about 4,765 (175)

TBX1 Gene [PDF]

, 2020
openaire   +1 more source

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.

PLoS ONE
The TBX1 gene plays a critical role in the development of 22q11.2 deletion syndrome (22q11.2DS), a complex genetic disorder associated with various phenotypic manifestations.
Maitha Almakhari, Yan Chen, Amanda Shen-Yee Kong, Danesh Moradigaravand, Kok-Song Lai, Swee-Hua Erin Lim, Jiun-Yan Loh, Sathiya Maran   +7 more
doaj   +1 more source

TBX1 wt Allele [PDF]

, 2020
openaire   +1 more source

Reduced dosage of Kmt2d modifies Tbx1 haploinsufficiency toward phenotypes of 22q11.2DS. [PDF]

JCI Insight
Miller D, Jackson K, Cox TC, Morrow BE.
europepmc   +1 more source

A Transcriptomic Analysis of Human iPSC-Derived Parathyroid Lineage Cells Reveals Limited Maturation Beyond the Parathyroid-Thymic Primordium. [PDF]

Cells
Kise C, Nakatsuka R, Kawamoto A, Sasaki Y, Hitomi H, Takahashi K, Nozaki T.   +6 more
europepmc   +1 more source

SIX1 branchio-oto-renal syndrome variants have different effects on embryonic craniofacial gene expression and cartilage formation. [PDF]

Development
Coppenrath K, Shaidani NI, Naert T, Majumdar HD, Horb M, Lienkamp SS, Klein SL, Moody SA.   +7 more
europepmc   +1 more source

Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies. [PDF]

J Hum Immun
Duintjer AJ, Blom M, Bredius RGM, Pico-Knijnenburg I, Heuperman A, Hodemaekers H, Imholz S, Dollé MET, Brandsema RB, van de Corput L, Henriet SS, Kuijpers TW, van Montfrans JM, Vermont CL, van Well GTJ, Zonneveld-Huijssoon E, Voorhoeve E, van Gijn ME, van der Burg M.   +18 more
europepmc   +1 more source

Modelling Tetralogy of Fallot: insights and limitations of animal models. [PDF]

Front Cell Dev Biol
Mouzourou D, Zhou H, Keavney B, Hentges KE.   +3 more
europepmc   +1 more source

T-Box Transcription Factor TBX1 [PDF]

, 2020
openaire   +1 more source

Integrated Transcriptome Landscape of mRNAs, lncRNAs, circRNAs, and miRNAs Reveals Molecular Regulatory Networks of Sex Differentiation in the Zig-Zag Eel (<i>Mastacembelus armatus</i>). [PDF]

Int J Mol Sci
Zhu J, Jia X, Ji L, Chen C, Gao C, Hong X, Liu X, Wei C, Zhu X, Li W.   +9 more
europepmc   +1 more source