Results 61 to 70 of about 66,200 (304)

A Population‐Based Study on Childhood Aplastic Anemia—Incidence, Outcomes, and Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Childhood aplastic anemia (AA) is a rare disease, and both the disease itself and its treatment cause significant morbidity. We aimed to determine the contemporary incidence of childhood AA in Finland, to compare the clinical characteristics of AA against inherited bone marrow failure syndromes (IBMFS) and refractory cytopenia of ...
Lauri‐Matti Kulmala, Riitta Niinimäki, Tytti Pokka, Anu Huurre, Liisa Järvelä, Sauli Palmu, Tuuli Pöyhönen, Pauliina Utriainen, Henri Aarnivala   +8 more
wiley   +1 more source

Symposium review: The genomic architecture of inbreeding: How homozygosity affects health and performance.

Journal of Dairy Science, 2019
Inbreeding depression is a growing concern in livestock because it can detrimentally affect animal fitness, health, and production levels. Genomic information can be used to more effectively capture variance in Mendelian sampling, thereby enabling more ...
C. Baes, B. Makanjuola, F. Miglior, G. Marras, J. Howard, A. Fleming, C. Maltecca   +6 more
semanticscholar   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Rare cases in two Chinese MEN2A families with RET C634Y germline mutation—a homozygous female patient and heterozygous identical twins: a systematic review of literature

Frontiers in Endocrinology
BackgroundGermline RET-p.C634Y heterozygous mutations are predominant in MEN2A, but homozygous cases and MEN2A-affected identical twins remain poorly characterized.SummaryWe report two MEN2A families—a homozygous female patient and heterozygous male ...
Xiao-Ping Qi, Xiao-Ping Qi, Yu-Ting Weng, Zhen-Yu Chen, Mei-Xian Zhang, Xiao-Ling Yang, Zhi-Lie Cao, Zhi-Lie Cao, Xue-Xing Zhang, Wen-Bo Zhu, Hong-Yuan Yu, Wei-Ying Chen, Ji-Ya Chen, Fei-Ping Li   +13 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Nutrient/TOR signaling controls adipose mitochondrial transcription factor A (TFAM) to regulate organismal growth in Drosophila

FEBS Letters, EarlyView.
Animals must match their growth rate to available nutrients. We show that in Drosophila larvae, the nutrient‐sensing TOR kinase controls growth by regulating levels of TFAM, a key regulator of mitochondrial function, in the adipose tissue. When nutrients are abundant, high TOR activity suppresses TFAM, lowering mitochondrial bioenergetic activity and ...
Shrivani Sriskanthadevan‐Pirahas, Shahoon Khan, Abhishek Sharma, Byoungchun Lee, Savraj S. Grewal   +4 more
wiley   +1 more source

Management of Genetic Diversity in the Era of Genomics

Frontiers in Genetics, 2020
Management of genetic diversity aims to (i) maintain heterozygosity, which ameliorates inbreeding depression and loss of genetic variation at loci that may become of importance in the future; and (ii) avoid genetic drift, which prevents deleterious ...
Theo H. E. Meuwissen, Anna K. Sonesson, Gebreyohans Gebregiwergis, John A. Woolliams   +3 more
doaj   +1 more source

Genomic Patterns of Homozygosity in Chinese Local Cattle

Scientific Reports, 2019
Genome-wide single nucleotide polymorphism (SNP) arrays can be used to explore homozygosity segments, where two haplotypes inherited from the parents are identical. In this study, we identified a total of 27,358 runs of homozygosity (ROH) with an average
Lingyang Xu, Guoyao Zhao, Liu Yang, B. Zhu, Yan Chen, Lupei Zhang, Xue Gao, Huijiang Gao, G. Liu, Junya Li   +9 more
semanticscholar   +1 more source

Targeting transcription factors associated with hemoglobinopathies: Lessons from successful interventions and implications for cancer

Molecular Oncology, EarlyView.
This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu, Puspa Das, Xing Zhang, Xiaodong Cheng   +3 more
wiley   +1 more source

Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data

BMC Genomics, 2017
Runs of Homozygosity (ROH) are genomic regions where identical haplotypes are inherited from each parent. Since their first detection due to technological advances in the late 1990s, ROHs have been shedding light on human population history and ...
F. Ceballos, S. Hazelhurst, M. Ramsay
semanticscholar   +1 more source