Results 71 to 80 of about 5,372,923 (315)

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

Comparative Drug Response Profiling in Neuroblastoma Cell Lines and Patient‐Derived Tumor Organoids

Pediatric Blood &Cancer, EarlyView.
ABSTRACT High‐risk neuroblastoma remains a leading cause of pediatric cancer mortality, and improved preclinical models are needed to guide therapeutic developments. We screened seven high‐risk neuroblastoma cell lines and three patient‐derived tumor organoids with 528 compounds alongside bone marrow controls, and compared them with external datasets ...
Krzysztof Wierbiłowicz, Se Whee Sammy Park, Aironas Los, Ernest Liu, Nona Struyf, Tom Erkers, Sören Lehmann, Jan J. Molenaar, Jakob Stenman, Olli Kallioniemi, Päivi Östling, Brinton Seashore‐Ludlow, Kasper Karlsson   +12 more
wiley   +1 more source

Development of an HPV Genotype Detection Platform Based on Aggregation-Induced Emission (AIE) and Flow-Through Hybridization Technologies

Molecules, 2022
Genetic mutations can cause life-threatening diseases such as cancers and sickle cell anemia. Gene detection is thus of importance for disease-risk prediction or early diagnosis and treatment.
Chun-Ho (Charlie) Ma, Liejun Li, Shuheng Cai, Pei Lin, Wing-Ki (Kristy) Lam, Tsz-Him (Ronald) Lee, Tsz-Kin (Ryan) Kwok, Longxu Xie, Tit-Sang (Tom) Kun, Ben-Zhong Tang   +9 more
doaj   +1 more source

The genetics of Ménière's disease.

The application of clinical genetics, 2015
Our understanding of the genetic basis of Ménière's disease (MD) is still limited. Although the familial clustering and the geographical and racial differences in incidence strongly suggest a certain role for genetic factors in the development of MD, no convincing evidence for an association with any gene exists, at present.
Giuseppe Chiarella, Claudio Petrolo, CASSANDRO, Ettore   +2 more
openaire   +2 more sources

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

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

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

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

, 2021
Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the high rates of consanguinity. Hence, we performed systematic reviews of the literature in order
Lilia Romdhane, Nessrine Mezzi, Mezzi, Nessrine, Messaoud, Olfa, Romdhane, Lilia, Anissa Zaouak, Mrad, Ridha, Safa Romdhane, Mkaouar, Rahma, Abdessalem, Ghaith, Olfa Messaoud, Rahma Mkaouar, Charfeddine, Cherine, Yosr Hamdi, Sonia Abdelhak, Abdelhak, Sonia, Ridha Mrad, Ghaith Abdessalem, Ines Ouerteni, Cherine Charfeddine, Faouzi Maazoul, Romdhane, Safa, Hamdi, Yosr, Zaouak, Anissa, Maazoul, Faouzi, Ouerteni, Ines, Zitouna, Nadia, Nadia Zitouna   +27 more
core   +1 more source

Social Functioning Within the First Years After Pediatric Brain Tumor Diagnosis and the Relationship With Family Psychosocial Risk

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survivors of pediatric brain tumors (PBTs) can experience long‐term social difficulties, impacting quality of life. Beyond medical and environmental factors, family psychosocial risk may play a role in social outcomes by shaping the caregiving environment and may provide intervention options.
Renske H. Houben, Marisa H. Huisman, Martha A. Grootenhuis, Femke K. Aarsen, Marita Partanen   +4 more
wiley   +1 more source