Results 181 to 190 of about 163,521 (283)

Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis. [PDF]

Sci Rep
Montini M, Bonacchi L, Sidoti D, Cuccoli S, Pantaleo M, Peron A, Scuffi I, DosSantos MF, Nassini R, De Logu F, Papi L.   +10 more
europepmc   +1 more source

Common fragile sites. Structure, replication and their role in chromosome instabiity [PDF]

, 2011
BOSCO, NAZARIO
core  

Establishment of Salivary Gland Tumors Arising in Salivary Gland‐Specific EWSR1::ATF1 Transgenic Mice

Head &Neck, EarlyView.
ABSTRACT Background Salivary gland carcinomas are uncommon malignancies with various histological subtypes harboring fusion genes. The EWSR1::ATF1 fusion gene, resulting from a translocation between chromosomes 12 and 22, is frequently observed in hyalinizing clear cell carcinoma (HCCC). However, the role of this fusion gene in HCCC oncogenesis remains
Yuri Hirai, Yoshitaka Utsumi, Daisuke Sano, Tatsu Kuwahara, Yoshihiro Aizawa, Takashi Hatano, Hisashi Hasumi, Yutaro Soejima, Tatsukata Kawagoe, Ryosuke Jikuya, Nobuhisa Mizuki, Satoshi Fujii, Toshitaka Nagao, Nobuhiko Oridate   +13 more
wiley   +1 more source

Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy. [PDF]

Congenit Anom (Kyoto)
Nakae K, Hamada S, Kawamura J, Ueno K, Takenouchi T, Okamoto Y.   +5 more
europepmc   +1 more source

PTEN Deletions Are Associated With Tumor Progression But Unrelated to Patient Prognosis in Muscle-Invasive Urothelial Bladder Carcinomas: A Large Multi-Center Validation Study on 2710 Urothelial Bladder Carcinomas. [PDF]

Genes Chromosomes Cancer
Kluth M, Plage H, Furlano K, Hofbauer S, Weinberger S, Fendler A, Ralla B, Schallenberg S, Elezkurtaj S, Lennartz M, Marx AH, Samtleben H, Fisch M, Rink M, Slojewski M, Kaczmarek K, Ecke T, Adamini N, Weischenfeldt J, Zecha H, Simon R, Sauter G, Schlomm T, Horst D, Minner S.   +24 more
europepmc   +1 more source

Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome. [PDF]

Front Pediatr
Akiba T, Shimada S, Ikegami M, Nishizaki N, Hashizume A, Nozaki T, Nagashima Y, Tsujimura A, Nakazawa-Tanaka N, Miyano G, Takahashi K, Shoji H.   +11 more
europepmc   +1 more source

Case Report: Expanding the diagnostic spectrum of non-invasive prenatal testing to structural chromosomal abnormalities. [PDF]

Front Genet
Kim JC, Kim H, Jang H, Go M, Park JE, Ryu CS, Chin MU, Kim EH, Lee YJ, Shim SH, Cha DH.   +10 more
europepmc   +1 more source

Polygenic risk score and prostate specific antigen predict death from prostate cancer in men with intermediate aggressive cancer

International Journal of Cancer, EarlyView.
What's New? Using 21 SNPs, two novel PRS were constructed and used to develop two new machine‐learning classifiers, one for the detection of prostate cancer and the other for the prediction of its aggressiveness and subsequent mortality. The classifier for disease detection is built using the PRS as the sole feature, whereas the one for disease ...
Leandro Rodrigues Santiago, Efthymios Ladoukakis, Dorota Scibior‐Bentkowska, Belinda Nedjai   +3 more
wiley   +1 more source

PAN2 maintains mRNA poly(A) tail homeostasis and regulates translation during spermiogenesis in mice. [PDF]

Nat Commun
Wu X, Wu YK, Jia MY, Niu Z, Liu J, Wang WJ, Jiang ZY, Lu F, Chen L, Liu L, Fan HY.   +10 more
europepmc   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source