Results 101 to 110 of about 4,653 (175)

Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy

La Pediatria Medica e Chirurgica, 2016
In the present paper we report on a case of oculo-auriculo-vertebral spectrum presenting fluorescence in situ hybridization and comparative genomic hybridization tests negative, hypotonia of some branchiomeric muscles (with velo-pharyngeal insufficiency,
Giovanni Murialdo, Attilia Piazzi, Giuseppe Badolati, Enrico Calcagno, Agostino Berio   +4 more
doaj   +1 more source

Regulation of Sema3c and the Interaction between Cardiac Neural Crest and Second Heart Field during Outflow Tract Development

Scientific Reports, 2017
The cardiac neural crest cells (cNCCs) and the second heart field (SHF) play key roles in development of the cardiac outflow tract (OFT) for establishment of completely separated pulmonary and systemic circulations in vertebrates. A neurovascular guiding
Kazuki Kodo, Shinsuke Shibata, Sachiko Miyagawa-Tomita, Sang-Ging Ong, Hiroshi Takahashi, Tsutomu Kume, Hideyuki Okano, Rumiko Matsuoka, Hiroyuki Yamagishi   +8 more
doaj   +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 Gene [PDF]

, 2020
openaire   +1 more source

TBX1 wt Allele [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

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 Res
Li 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, Wen Y, Yi S, Lin Y, Peng J, Pan X, Zhou X.   +6 more
europepmc   +1 more source

Aberrant expression of MAPK1 and MCTS1 in chronic myeloid leukemia (CML). [PDF]

MicroPubl Biol
Kortendick L, Meyer C, Nagel S.
europepmc   +1 more source

Cell cycle-driven transcriptome maturation confers multilineage competence to cardiopharyngeal progenitors. [PDF]

EMBO J
Bernadskaya YY, Kuan A, Tjärnberg A, Brandenburg J, Zhang P, Wiechecki K, Kaplan N, Failla M, Bikou M, Madilian O, Bruderer N, Wang W, Christiaen L.   +12 more
europepmc   +1 more source