Results 161 to 170 of about 5,757 (204)

The systemic effects of 22q11.2 deletion syndrome on immunity. [PDF]

J Hum Immun
van Oers NSC, Sullivan KE.
europepmc   +1 more source

Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women. [PDF]

Ann Med
Hu L, Cao X, Zeng S, Wen L, Zhong J, Liu Y, Liu W, Wei F.   +7 more
europepmc   +1 more source

Emerging genes implicated in human congenital heart disease: a 2023-2025 scoping review. [PDF]

Transl Pediatr
Israel S, Morton SU.
europepmc   +1 more source

Cross-tissue transcriptome-wide association studies identify genetic susceptibility genes for prostate cancer. [PDF]

BMC Cancer
Hua J, Qian Y, Lu Y, Zhang Q, Que H, Zeng T, Li Q, Deng J, Xie J.   +8 more
europepmc   +1 more source

The Tbx1 ortholog org-1 is required to establish testis stem cell niche identity in Drosophila. [PDF]

Development
Hofe P, Harrington A, Gardner T, DiNardo S, Anllo L.   +4 more
europepmc   +1 more source

TBX20 regulates epithelial-mesenchymal transition, maintains tumor stemness and immune factor expression, and promotes immune escape in lung cancer. [PDF]

Oncol Lett
Xu C, Zhou P, Zhang Y, Li L, Wang G.
europepmc   +1 more source

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Cloning and characterization of zebrafish tbx1

Gene Expression Patterns, 2003
Tbx1 is one of the genes within the DiGeorge Critical Region (DGCR) and has been recently identified as the critical gene for the cardiovascular anomalies in the DiGeorge mouse models. We have cloned, sequenced and analyzed the zebrafish (Danio rerio) tbx1 cDNA.
Lazaros K, Kochilas, Vijaya, Potluri, Aaron, Gitler, Krithika, Balasubramanian, Alvin J, Chin   +4 more
openaire   +2 more sources

Role of TBX1 in human del22q11.2 syndrome

The Lancet, 2003
Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000-5000 livebirths. It is characterised by a 3-Mb deletion on chromosome 22q11.2, cardiac abnormalities, T-cell deficits, cleft palate facial anomalies, and hypocalcaemia. At least 30 genes have been mapped to the deleted region.
Hisato, Yagi, Yoshiyuki, Furutani, Hiromichi, Hamada, Takashi, Sasaki, Shuichi, Asakawa, Shinsei, Minoshima, Fukiko, Ichida, Kunitaka, Joo, Misa, Kimura, Shin-ichiro, Imamura, Naoyuki, Kamatani, Kazuo, Momma, Atsuyoshi, Takao, Makoto, Nakazawa, Nobuyoshi, Shimizu, Rumiko, Matsuoka   +15 more
openaire   +2 more sources

Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia [PDF]

Genes, 2016
A higher-than-expected frequency of schizophrenia in patients with 22q11.2 deletion syndrome suggests that chromosome 22q11.2 harbors the responsive genes related to the pathophysiology of schizophrenia. The TBX1 gene, which maps to the region on chromosome 22q11.2, plays a vital role in neuronal functions.
Min-Chih Cheng, Shih-Hsin Hsu
exaly   +3 more sources