Mesodermal Tbx1 is required for patterning the proximal mandible in mice
Developmental Biology, 2010 Defects in the lower jaw, or mandible, occur commonly either as isolated malformations or in association with genetic syndromes. Understanding its formation and genetic pathways required for shaping its structure in mammalian model organisms will shed light into the pathogenesis of malformations in humans.
Aggarwal, Vimla S. +5 more
openaire +2 more sources
The 22q11.2 Deletion Syndrome: A Gene Dosage Perspective
The Scientific World Journal, 2006 The 22q11.2 deletion/DiGeorge syndrome is a relatively common “genomic” disorder that results from heterozygous deletion of a 3-Mbp segment of chromosome 22.
Antonio Baldini
doaj +1 more source
Modification of Cardiac Phenotype in Tbx1 Hypomorphic Mice [PDF]
, 2016 Congenital heart disease is still the leading cause of death within the first year of life. Our lab forces on understanding the morphology of congenital heart disease. Outflow tract anomalies, including abnormal alignment or septation, account for 30 % of all congenital heart disease.
Takatoshi Tsuchihashi +6 more
openaire +1 more source
Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders
Molecular Medicine, 2007 A significant portion of patients with 22q11 deletion syndrome (22q11DS) develop psychiatric disorders, including schizophrenia and other psychotic and affective symptoms, and the responsible gene/s are assumed to also play a significant role in the etiology of nonsyndromic psychiatric disease.
Birgit H, Funke +9 more
openaire +2 more sources
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 SciZhu J +9 more
europepmc +1 more source
Identification and validation of biomarkers related to mitochondria-associated endoplasmic reticulum membranes in type 2 diabetes mellitus using peripheral blood transcriptomics. [PDF]
Eur J Med ResLi S, Yan Y, Luo Q, Tian R, Yan J.
europepmc +1 more source
Elucidation of the XX/XY Sex Determination System and Development of a Sex-Linked Molecular Marker in the Freshwater Snail <i>Bellamya purificata</i>. [PDF]
Animals (Basel)Gao Y +6 more
europepmc +1 more source
Multiscale Convergence of Signaling, Epigenetic, and Environmental Networks in Mammalian Palatogenesis and Cleft Palate Pathogenesis. [PDF]
Int J Stem CellsWon HJ, Song B, Song Y, Shin JO.
europepmc +1 more source