Results 41 to 50 of about 462,672 (344)

A New ‘Deleted’ Rh-Chromosome [PDF]

Nature, 1958
IN 1950, Race, Sanger and Selwyn reported1 a very unusual Rh phenotype characterized by an extraordinary strong reaction with anti-D sera and completely negative reaction with anti-C, anti-c, anti-E and anti-e sera. The case was explained as the homozygous form of a partially deleted Rh chromosome, designated D − −.
openaire   +2 more sources

Chromosome 20q Deletion [PDF]

American Journal of Clinical Pathology, 2011
Abstractdel(20q) can be observed in hematologic neoplasms, including chronic myelogenous leukemia (CML), and has been reported in patients undergoing blast transformation. We describe 10 patients with CML in hematologic and cytogenetic remission with del(20q) detected by conventional cytogenetics.
Jianlan Sun, C. Cameron Yin, Wei Cui, Su S. Chen, L. Jeffrey Medeiros, Gary Lu   +5 more
openaire   +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

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Molecular Cytogenetics, 2008
We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point. The patient presented with failure to thrive, muscular hypotonia,
Fang Ping, Brown Chester W, Yatsenko Svetlana A, Peacock Sandra, Ou Zhishuo, Cooper M Lance, Shchelochkov Oleg A, Stankiewicz Pawel, Cheung Sau   +8 more
doaj   +1 more source

Double-strand break repair and homologous recombination in Schizosaccharomyces pombe [PDF]

, 2006
In recent years our understanding of double strand break repair and homologous recombination in Schizosaccharomyces pombe has increased significantly, and the identification of novel pathways and genes with homologues in higher eukaryotes has increased ...
Ahmad, Ahmad, Ahn, Ahnesorg, Akamatsu, Assenmacher, Baumann, Boddy, Boddy, Bonatto, Bransteitter, Buck, Callebaut, Caspari, Catlett, Cervantes, Chahwan, Cheok, Connelly, Cooper, Doe, Doe, Doe, Doe, Dudasova, Farah, Farah, Ferreira, Ferreira, Fukushima, Gaillard, Goedecke, Goodwin, Grishchuk, Haber, Hartsuiker, Hefferin, Jang, Jung, Khasanov, Khasanov, Kibe, Kim, Kim, Krogh, Lambert, Laursen, Macris, Maftahi, Maftahi, Manolis, Marchetti, Martin, McGlynn, Moore, Morishita, Muris, Muris, Muris, Murray, Nakada, Nakamura, Oakley, Ono, Osman, Osman, Osman, Ostermann, Paques, Parker, Prudden, Sauvageau, Schmidt, Segurado, Shinohara, Smith, Steiner, Stewart, Sung, Suto, Szankasi, Szostak, Tarsounas, Tavassoli, Thacker, Tomita, Tomita, Tsutsui, Tsutsui, Ueno, van den Bosch, van den Bosch, Virgin, Virgin, Wang, Weterings, Whitby, Whitby, Wilson, Win, Win, You, Young   +102 more
core   +2 more sources

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region

Clinical Case Reports, 2017
Key Clinical Message Chromosome 10p deletion is a rare disorder. This is the largest deletion in chromosome 10p reported to date and the first to be diagnosed in the early neonatal period because of severe clinical manifestations.
Saet Byeol Kim, Young‐Eun Kim, Ji Mi Jung, Hye Young Jin, Yun‐Jung Lim, Mi Lim Chung   +5 more
doaj   +1 more source

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain [PDF]

, 2013
Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism.
BEYSEN, DIANE, Carvalho, Claudio MB, D'haene, Barbara, De Baere, Elfride, Lapunzina, Pablo, Lupski, James R, Menten, Björn, Nevado, Julian, Novikova, Yana, Sante, Tom, Verdin, Hannah   +10 more
core   +4 more sources

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source