Results 51 to 60 of about 6,617,997 (307)

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Knockout of the Bcmo1 gene results in an inflammatory response in female lung, which is suppressed by dietary beta-carotene [PDF]

, 2010
Beta-carotene 15,15'-monooxygenase 1 knockout (Bcmo1 (-/-)) mice accumulate beta-carotene (BC) similarly to humans, whereas wild-type (Bcmo1 (+/+)) mice efficiently cleave BC.
Yvonne G. J. van Helden, Georg Lietz, Roger W. L. Godschalk, Jaap Keijer, Teerds, K., Hessel, S., Keijer, J., Schooten, F.J., van, Adrian Wyss, von Lintig, J., Sandra G. Heil, Heil, S.G., Kramer, E., Lietz, G., van Schooten, F.J., Lintig, J., von, Amengual, J., Wyss, A., Ribot, J., Katja Teerds, Frederik J. van Schooten, Helden, Y.G.J., Johannes von Lintig, Godschalk, R.W.L., M. Luisa Bonet, van Helden, Y.G., Evelien Kramer, Joan Ribot, Susanne Hessel, Teerds, K.J., Bonet, M.L., Jaume Amengual   +31 more
core   +1 more source

Reproductive ability of cows of domestic dairy breeds with different allelic variants of the leptin gene

Аграрная наука Евро-Северо-Востока, 2022
Conducting genetic studies of domestic local breeds of cattle is relevant due to the fact that they are carriers of valuable economic traits and have a high adaptive ability to local conditions.
A. D. Lemyakin, A. N. Tyazhchenko, K. D. Sabetova, A. A. Chaitsky, P. O. Shchegolev, A. A. Korolev   +5 more
doaj   +1 more source

GEIRA: gene-environment and gene–gene interaction research application [PDF]

European Journal of Epidemiology, 2011
The GEIRA (Gene-Environment and Gene-Gene Interaction Research Application) algorithm and subsequent program is dedicated to genome-wide gene-environment and gene-gene interaction analysis. It implements concepts of both additive and multiplicative interaction as well as calculations based on dominant, recessive and co-dominant genetic models ...
Ding, Bo, Källberg, Henrik, Klareskog, Lars, Padyukov, Leonid, Alfredsson, Lars   +4 more
openaire   +3 more sources

Survival After Hematopoietic Stem Cell Transplantation in Diamond–Blackfan Anemia Syndrome: The Role of Iron Overload—A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We assessed the effect of iron overload (IO) on mortality and complications following hematopoietic stem cell transplantation (HSCT) in patients with Diamond–Blackfan anemia syndrome (DBAS) in a systematic review of individual participant data and cohort data from observational studies.
Geoffrey Z. L. Kuppens, Evangelia Kiakou, Lieke de Zwart, Maurizio Miano, Eduard J. van Beers, Marc Bierings, Marije Bartels   +6 more
wiley   +1 more source

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next‐Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho, Emmanuella Amoako, Nihad Salifu, Lily Gloria Tagoe, Yaw Bediako, Michelle Hermiston, Catherine Segbefia   +6 more
wiley   +1 more source

Effects of candidate genes on milk fat synthesis in ruminants: A meta-analysis

Journal of Dairy Science
: Milk fat content is a polygenic commercially important quantitative trait in ruminants. In recent decades, an increasing number of genes involved in milk fat synthesis have been identified through GWAS and validated using functional assays, such as ...
Lily Liu, Wenquan Yan, Min Yan, Songlin Liu, Qin Zhang, Emily Clark, Jinhai Wang   +6 more
doaj   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Heterogeneous nuclear ribonucleoprotein H1 and its function in tumor development and metastasis

Shanghai Jiaotong Daxue xuebao. Yixue ban
Heterogeneous nuclear ribonucleoprotein (hnRNP) and heterogeneous nuclear RNA (hnRNA) form complexes that regulate RNA splicing and transportation. hnRNPH1 is a member of the hnRNP family of proteins and plays an important role in physiological processes,
ZHANG Zongwen, FENG Li, FAN Zhisong
doaj   +1 more source

Impact of Radiation Therapy on Physical and Psychosocial Health of Adolescents and Young Adults: A Joint Report From the Children's Oncology Group AYA and Radiation Oncology Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Rates of cancer among adolescents and young adults (AYA), age 15–39 years, are increasing. Consequently, radiation oncologists are treating more AYAs who have diagnoses spanning both pediatric and adult practices. Compared to pediatric and older adult patients, AYAs face a unique set of challenges.
Hesham Elhalawani, Rachel K. Peterson, Avani D. Rao, Laurie J. McKenzie, Ahmed Magdy Elmotayam, Leslie Chang, Michael Roth, Susan L. McGovern   +7 more
wiley   +1 more source