Results 41 to 50 of about 1,423,917 (266)

Human Genetic Diseases [PDF]

BioMed Research International, 2015
There is no question that the rapid advance in genetic technology is changing our viewpoint on medical practice, which is dramatically improving the diagnosis, prognosis, and therapy of human genetic disease. In particular, the next-generation sequencing (NGS) technologies, such as exome sequencing and whole-genome sequencing, and gene editing ...
Hao Deng, Peter Riederer, Han-Xiang Deng, Weidong Le, Wei Xiong, Yi Guo   +5 more
openaire   +2 more sources

Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue

EMBO Molecular Medicine
Barth syndrome (BTHS) is a rare X-linked recessively inherited disorder caused by variants in the TAFAZZIN gene, leading to impaired conversion of monolysocardiolipin (MLCL) into mature cardiolipin (CL).
Bauke V Schomakers, Adriana S Passadouro, Maria M Trętowicz, Pelle J Simpson, Yorrick R J Jaspers, Michel van Weeghel, Iman Man Hu, Cathelijne M E Lamboo, Denise Cloutier, Barry J Byrne, Jan Bert van Klinken, Paul M L Janssen, Sander R Piersma, Connie R Jimenez, Frédéric M Vaz, Gajja S Salomons, Jolanda van der Velden, Riekelt H Houtkooper, Signe Mosegaard   +18 more
doaj   +1 more source

Guidelines for Pediatric Radiotherapy Simulation: A Report From the Children's Oncology Group Radiation Oncology Discipline

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric radiation therapy presents unique challenges compared to adult treatments, including those of immobilization, potential need for sedation, and the critical importance of accurate, reproducible positioning. Additionally, heightened attention to imaging doses is necessary to minimize long‐term toxicity in survivors.
Parham Alaei, Stephen Mihalcik, Sujith Baliga, Young Kwok, Dana Casey, Eric Ehler, Christiane Burton, John C. Breneman, Daphne A. Haas‐Kogan, Suzanne L. Wolden, Arnold C. Paulino, Nadia N. Laack, Natia Esiashvili, Sarah Milgrom, Christine Hill‐Kayser, Thomas J. Fitzgerald, John A. Kalapurakal, Chia‐Ho Hua   +17 more
wiley   +1 more source

Immuno-metabolic stress responses control longevity from mitochondrial translation inhibition in C. elegans

Nature Communications
Perturbing mitochondrial translation represents a conserved longevity intervention, with proteostasis processes proposed to mediate the resulting lifespan extension.
Iman Man Hu, Marte Molenaars, Yorrick R. J. Jaspers, Bauke V. Schomakers, Michel van Weeghel, Amber Bakker, Melanie Modder, Joseph P. Dewulf, Guido T. Bommer, Arwen W. Gao, Georges E. Janssens, Riekelt H. Houtkooper   +11 more
doaj   +1 more source

A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report

Journal of Biochemical and Clinical Genetics
Background: The spleen tyrosine kinase (SYK) gene, located on chromosome 9q22.2, encodes a crucial cytoplasmic non-receptor tyrosine kinase involved in immune cell signaling, particularly in B and T cell receptor pathways. Mutations in SYK are linked to &
Aslı Guner Ozturk Demir, Akif Ayaz, Muhsin Elmas   +2 more
doaj   +1 more source

Improved Early Referral in Long‐Term Survivor Care With Institutional Standardized Practice Among Childhood Leukemia Survivors#

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In 2018, the Texas Children's Cancer and Hematology Center Leukemia Program implemented a practice standard to support the transition from treatment to survivorship that includes shared, alternating care between leukemia and survivorship clinicians and a reminder to refer survivors to the long‐term survivor clinic (LTSC) 2 years after ...
Ji Yun Tark, Kayla L. Foster, Omar Shakeel, Mary C. Shapiro, Shawki L. Qasim, ZoAnn Dreyer, Eric S. Schafer, Ashley M. Butler, Austin L. Brown, Maria Monica Gramatges   +9 more
wiley   +1 more source

Genetics of Parkinson's disease

Dialogues in Clinical Neuroscience, 1998
A genetic contribution to the etiology of Parkinson's disease (PD) is now well established, based on the demonstration of a familial aggregation of the disease as demonstrated by several case–control and twin studies, and on the description of large multigenerational families, in whom PD is inherited in a Mendelian fashion.
openaire   +7 more sources

Impact of GATA2 gene polymorphism (rs2335052 A > G) on coronary artery disease susceptibility

Egyptian Journal of Medical Human Genetics
Background The transcription factor GATA binding protein 2 (GATA2) is essential for the gene expression profile in vascular endothelial cells. GATA2 located on 3q21, encodes a transcription factor essential for the production and differentiation of ...
Sailaja Maddhuri, Chaitanya Kumar Bhukya, Gummadi Akhil, V. Gayathri Snigdha, P. Priyanka, Amaresh Rao Malempati, Vijaya Lakshmi Bodiga   +6 more
doaj   +1 more source

Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy – a case report

BMC Medical Genetics, 2020
Background Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders.
Adrian Giucă, Cristina Mitu, Bogdan Ovidiu Popescu, Alexandra Eugenia Bastian, Răzvan Capşa, Adriana Mursă, Viorica Rădoi, Bogdan Alexandru Popescu, Ruxandra Jurcuţ   +8 more
doaj   +1 more source

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall, Emma N. Harrison, Genevieve C. Kendall   +2 more
wiley   +1 more source