Results 41 to 50 of about 175,797 (297)

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Comparative Genomic Hybridization Array Analysis [PDF]

, 2002
At the present time, there is increasing evidence that cancer may be regulated by the number of copies of genes in tumor cells. Through microarray technology it is now possible to measure the number of copies of thousands of genes and gene segments in ...
Molinaro, Annette M., Moore, Dan H., van der Laan, Mark J.   +2 more
core   +1 more source

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider, Amelie Alfert, Marc Hotfilder, Birgit Burkardt, Marcel te Vrugt   +4 more
wiley   +1 more source

Array Comparative Genomic Hybridization in Sarcomas [PDF]

, 2007
Over the past years, much research on sarcomas based on low-resolution cytogenetic and molecular cytogenetic methods has been published, leading to the identification of genetic abnormalities partially underlying the tumourigenesis. Continued progress in
Kaur, Sippy
core  

Cytomolecular identification of individual wheat-wheat chromosome arm associations in wheat-rye hybrids [PDF]

, 2013
Chromosome pairing in the meiotic metaphase I of wheatrye hybrids has been characterized by sequential genomic and fluorescent in situ hybridization allowing not only the discrimination of wheat and rye chromosomes, but also the identification of the
Badaeva ED, Badaeva ED, Bass HW, Bedbrook J, Berkman PJ, Cifuentes M, Cifuentes M, Cifuentes M, Colas I, Conley EJ, Contento A, Cuadrado A, Devos KM, Devos KM, Fedak G, Fernandez-Kalvin B, Ferrer E, Fominaya A, Gale MD, Gerlach WL, Gill BS, Hernandez P, Huang S, I. Molnár, Jauhar PP, Kamstra SA, Le HT, Logojan A, Lukaszewski AJ, M. Megyeri, M. Molnár-Láng, Martinez-Perez E, Martinez-Perez E, Miller TE, Molnár I, Molnár I, Molnár I, Molnár I, Molnár-Láng M, Molnár-Láng M, Mukai Y, Munkvold JD, Nagaki K, Naranjo T, Naranjo T, Naranjo T, Prieto P, Qi L, Riley R, Riley R, Sabot F, Schwarzacher T, Sepsi A, Sharp PJ, Szakács, Sánchez-Morán E, Tischner T   +56 more
core   +1 more source

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Genomic profiling of submucosal-invasive gastric cancer by array-based comparative genomic hybridization.

PLoS ONE, 2011
Genomic copy number aberrations (CNAs) in gastric cancer have already been extensively characterized by array comparative genomic hybridization (array CGH) analysis.
Akiko Kuroda, Yoshiyuki Tsukamoto, Lam Tung Nguyen, Tsuyoshi Noguchi, Ichiro Takeuchi, Masahiro Uchida, Tomohisa Uchida, Naoki Hijiya, Chisato Nakada, Tadayoshi Okimoto, Masaaki Kodama, Kazunari Murakami, Keiko Matsuura, Masao Seto, Hisao Ito, Toshio Fujioka, Masatsugu Moriyama   +16 more
doaj   +1 more source

INFORMATION TECHNOLOGIES IN THE ASSESSMENT OF THE PREIMPLANTATION GENETIC DIAGNOSIS EFFICIENCY IN THE FIELD OF ASSISTED REPRODUCTIVE TECHNOLOGIES

Medična Informatika ta Inženerìâ, 2012
Application of the information technologies is becoming increasingly important in the practice of molecular and cytogenetic analysis of chromosomal abnormalities in particular on the preimplantation level.
S. V. Denysenko
doaj   +1 more source

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

Journal of Medical Case Reports, 2022
Background Chromosome 13q deletion syndrome shows variable clinical features related to the different potential breakpoints in chromosome 13q. The severely malformed phenotype is known to be associated with the deletion of a critical region in 13q32 ...
Tomomi Kotani, Hiroyuki Tsuda, Yumiko Ito, Noriyuki Nakamura, Takafumi Ushida, Kenji Imai, Yukako Iitani, Kazuya Fuma, Yukako Muramatsu, Masahiro Hayakawa, Hiroaki Kajiyama   +10 more
doaj   +1 more source

Clinical applications of comparative genomic hybridization [PDF]

Genetics in Medicine, 1998
Comparative genomic hybridization (CGH) is a powerful DNA-based cytogenetic technique that allows the entire genome to be scanned for chromosomal imbalances without requiring the sample material to be mitotically active. During the past 2 years we received many requests from various medical centers around the country to use CGH to resolve the identity ...
B, Levy, T M, Dunn, S, Kaffe, N, Kardon, K, Hirschhorn   +4 more
openaire   +2 more sources