Results 181 to 190 of about 109,479 (290)

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing. [PDF]

Front Genet, 2023
Wang Y, Li R, Fu F, Huang R, Li D, Liao C.   +5 more
europepmc   +1 more source

A highly abundant circular RNA from the RMST locus plays a role in posterior fossa ependymoma pathogenesis

Brain Pathology, EarlyView.
circRMST (hsa_circ_0099634) is by far the most abundant isoform from the RMST locus. It is highly expressed in cancer cells throughout ependymoma patient samples and is located in the cytoplasm. circRMST knockdown causes cell cycle arrest and induces differentiation, and it is a marker for poor prognosis. The figure is made using BioRender.
Ulvi Ahmadov, Charlotte W. Udengaard, Stine M. Vissing, Silke D. Nielsen, Kim‐Gwendolyn Dietrich, Benedicte Parm Ulhøi, Lasse S. Kristensen   +6 more
wiley   +1 more source

A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications. [PDF]

Front Genet
Xiao H, Xiao J, Zhang H, Huang S, Lu Q, Yuan H, Zou Y, Yang B, Liu Y.   +8 more
europepmc   +1 more source

A chromosomal microarray analysis-based laboratory algorithm for the detection of genetic etiology of early pregnancy loss. [PDF]

Front Genet, 2023
Liao N, Zhang Z, Liu X, Wang J, Hu R, Xiao L, Yang Y, Lai Y, Zhu H, Li L, Liu S, Wang H, Hu T.   +12 more
europepmc   +1 more source

Chromosomal microarray analysis as diagnostic tool: Estonian experience

, 2014
The higher-order architecture of the human genome has been shown to predispose to structural rearrangements, including losses and gains of DNA segments. Most rearrangements have no effect on human phenotype. However, changes in specific genomic regions can cause various pathological conditions, such as abnormal mental and physical development ...
openaire   +1 more source

Free Fetal DNA Testing to Guide Early Intervention in the Management of the Kell Alloimmunized Pregnancy

Prenatal Diagnosis, EarlyView.
Kenneth J. Moise Jr, Thomas Trevett, Stephanie Moench, Erin Moise   +3 more
wiley   +1 more source

Integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant reveals universal TP53 abnormalities

Brain Pathology, EarlyView.
This integrated high‐resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34‐mutant expands the spectrum of associated genetic changes and underscores the presence of universal TP53 abnormalities at copy number, sequence, and protein expression level, with frequent yet largely unrecognized TP53 copy‐neutral loss of ...
Jorge A. Trejo‐Lopez, Cinthya Zepeda Mendoza, Thomas M. Kollmeyer, Kristen L. Drucker, Vanessa M. Pazdernik, Paul A. Decker, Corinne E. Praska, Jayson Hardcastle, Stephanie Smoley, Matthew Isaacson, Mallika Gandham, Surendra Dasari, Aditya Raghunathan, Caterina Giannini, Gang Zheng, Aaron Wagner, M. Beatriz Lopes, Kar‐Ming A. Fung, JoElle G. Peterson, Andreana L. Rivera, Christopher Rossi, Meggen A. Walsh, Zied Abdullaev, Kenneth Aldape, Martha Quezado, Drew Pratt, Patrick Joseph Cimino, Robert B. Jenkins, Cristiane M. Ida   +28 more
wiley   +1 more source

Etiological diagnosis of miscarriage by combining use of chromosomal microarray analysis and whole-exome sequencing. [PDF]

Eur J Med Res
Zhuang J, Fu W, Gu L, Ye X, Wang J, Chen C.   +5 more
europepmc   +1 more source

Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup‐specific prognostic stratification using economical/accessible diagnostic methods

Brain Pathology, EarlyView.
This study characterizes the molecular subgroup–specific features of a nationwide Japanese cohort comprising 242 medulloblastomas (MBs). Furthermore, we introduce SEE‐6‐CNA, a simple, cost‐effective, and FFPE‐compatible molecular test that is applicable to routine pathology samples and serves as a surrogate for risk stratification in non‐WNT/non‐SHH ...
Kohichi Go, Asako Katsuma, Ema Yoshioka, Tomoko Shofuda, Kohei Fukuoka, Koichi Ichimura, Yuko Matsushita, Yohei Mineharu, Yasuhide Makino, Takeshi Kawauchi, Atsushi Sasaki, Junko Hirato, Takeshi Inoue, Yoshinori Kodama, Masayuki Mano, Daisuke Kanematsu, Noriyuki Kijima, Naoki Kagawa, Dai Keino, Akitake Mukasa, Tomonari Suzuki, Koji Yoshimoto, Daisuke Kuga, Keishi Horiguchi, Shigeru Yamaguchi, Masayuki Kanamori, Kai Yamasaki, Kenichi Ishibashi, Takuya Akai, Masayoshi Yamaoka, Ryuji Ishizaki, Atsufumi Kawamura, Shigeo Ohba, Joji Ishida, Ryo Ando, Junya Fukai, Tomoru Miwa, Masazumi Fujii, Ai Muroi, Kuniaki Saito, Atsuko Harada, Yasuhiko Hayashi, Masahiro Nonaka, Young‐Soo Park, Yusuke Kobayashi, Tadashi Higuchi, Yosuke Miyairi, Kazuhisa Yoshifuji, Noriyoshi Takebe, Soichi Oya, Kosuke Nakajo, Mitsutoshi Nakada, Yoshiteru Nakano, Mizuki Kambara, Koji Adachi, Kazuhiro Tanaka, Hideo Nakamura, Yukihiko Sonoda, Ryuta Saito, Takafumi Wataya, Kazuhiko Kurozumi, Michael D. Taylor, Yoshitaka Narita, Soichiro Shibui, Hajime Arai, Hiroaki Sakamoto, Isao Date, Motoo Nagane, Ryo Nishikawa, Yoshiki Arakawa, Yonehiro Kanemura   +70 more
wiley   +1 more source