Results 81 to 90 of about 502,320 (296)

A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia

BMC Ophthalmology, 2023
Background To identify the disease-causing gene in a Chinese family affected with congenital aniridia. Methods Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography ...
Yinwen Li, Jieqiong Chen, Ying Zheng, Zhixuan Chen, Tao Wang, Qian Sun, Xiaoling Wan, Haiyun Liu, Xiaodong Sun   +8 more
doaj   +1 more source

Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes. [PDF]

, 2007
The mechanism of mitochondrial DNA replication is a subject of intense debate. One model proposes a strand-asynchronous replication in which both strands of the circular genome are replicated semi-independently while the other model proposes both a ...
Goffart, S, Pohjoismäki, JLO, Spelbrink, JN, Wanrooij, S, Yasukawa, T   +4 more
core   +1 more source

Defining Roles in Pediatric Palliative Care: Perspectives From Oncology and Palliative Care Teams

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Early integration of pediatric palliative care (PPC) is associated with improved symptom management, quality of life, and healthcare utilization for children with cancer. Despite this, variation persists in how PPC is understood, operationalized, and integrated within pediatric oncology programs. In particular, ambiguity surrounding
Leeat Granek, Lori Wiener, Stephanie Veldhuijzen van Zanten, Donna Johnston, Fyeza Hasan, Adam Rapoport, Nathasha Datoo, Kimberley Widger, Sumit Gupta, Karen Fergus, Anthony K. C. Chan, Alisha Kassam, Emily McCullogh, Dave Lysecki   +13 more
wiley   +1 more source

Genome dynamics of the human embryonic kidney 293 lineage in response to cell biology manipulations [PDF]

, 2014
The HEK293 human cell lineage is widely used in cell biology and biotechnology. Here we use whole-genome resequencing of six 293 cell lines to study the dynamics of this aneuploid genome in response to the manipulations used to generate common 293 cell ...
Boone, Morgane, Callewaert, Nico, Chen, Jason, Drmanac, Radoje, Lambrechts, Diether, Lemmens, Irma, Lin, Yao-Cheng, Meuris, Leander, Moisse, Matthieu, Plaisance, Stéphane, Reumers, Joke, Soete, Arne, Speleman, Franki, Tavernier, Jan, Van de Peer, Yves, Van Roy, Nadine   +15 more
core   +3 more sources

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

Detecting simultaneous variant intervals in aligned sequences [PDF]

, 2011
Given a set of aligned sequences of independent noisy observations, we are concerned with detecting intervals where the mean values of the observations change simultaneously in a subset of the sequences. The intervals of changed means are typically short
Siegmund, David, Yakir, Benjamin, Zhang, Nancy R.   +2 more
core   +3 more sources

Clinical and Biological Features of Response in Resistant Neuroblastoma to 131I‐Metaiodobenzylguanidine Radiotherapy in the Anti‐GD2 Immunotherapy Era

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background 131I‐metaiodobenzylguanidine (131I‐MIBG) radiotherapy is a key treatment for relapsed and refractory (R/R) neuroblastoma (NB). Patients with R/R disease treated in the modern era are increasingly exposed to anti‐GD2 immunotherapy, which exerts selective pressure and may modify both tumor cell state and microenvironment.
Benjamin J. Lerman, Katherine K. Matthay, Fabienne Hollinger, Catriona Black, Ann A. Lazar, Miguel Pampaloni, Steven G. DuBois, Kieuhoa T. Vo   +7 more
wiley   +1 more source

Chromoanagenesis in Osteosarcoma

Biomolecules
Chromoanagenesis is a catastrophic genomic phenomenon involving sudden, extensive rearrangements within one or a few cell cycles. In osteosarcoma, the most prevalent malignant bone tumor in children and adolescents, these events dramatically alter the ...
Guozhuang Li, Nan Wu, Jen Ghabrial, Victoria Stinnett, Melanie Klausner, Laura Morsberger, Patty Long, Ezra Baraban, John M. Gross, Ying S. Zou   +9 more
doaj   +1 more source

The Porcine TSPY Gene Is Tricopy but Not a Copy Number Variant. [PDF]

PLoS ONE, 2015
The testis-specific protein Y-encoded (TSPY) gene is situated on the mammalian Y-chromosome and exhibits some remarkable biological characteristics. It has the highest known copy number (CN) of all protein coding genes in the human and bovine genomes (up
Anh T Quach, Olutobi Oluwole, William Allan King, Tamas Revay   +3 more
doaj   +1 more source

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy. [PDF]

, 2018
We describe a consanguineous family in which two brothers were affected by childhood onset spastic ataxia with optic atrophy and loss of motor and language skills. Through a combination of homozygosity mapping and whole-genome sequencing, we identified a
Bayat, Dor, Engert, Layer, Masson, Mencacci, Pierson, Seelow, Trabzuni, Wang   +9 more
core   +2 more sources