Results 61 to 70 of about 357,869 (263)

CLINICAL VALUE DISTRIBUTION OF POLYMORPHISM OF THE LIPIDTRANSPORT SYSTEMS GENES IN PATIENTS WITH UNSTABLE ANGINA AND CORONARY HEART DISEASE IN FAMILY HISTORY

Евразийский Кардиологический Журнал, 2013
Aim. To study influence of coronary heart disease (CHD) in family history on distribution of polymorphism apolipoprotein A1, В and E genes of the lipidtransport systems and major adverse cardiac events (MACE) in patients of Uzbek nationality with ...
F. M. Bekmetova, L. E. Kahn, Sh. U. Khashimov, R. Kh. Trigulova, A. B. Shek, R. D. Kurbanov   +5 more
doaj   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

HETEROGENITY OF PRIMARY BLOOD HYPERTENSION RISK FACTORS IN CHILDREN AND ADOLESCENTS

Педиатрическая фармакология, 2006
The development of diagnostic and treatment methods used for blood hypertension and its’ complications is a crucial concern of pediatrics. The study included 229 children, the study group consisted of 113 children (60 boys, 53 girls) with elevated blood ...
O.L. Kolobova
doaj   +2 more sources

POLYMORPHIC VARIANTS OF GENES CODING SYMPATHOADRENAL SYSTEM INFLUENCE ON PHENOTYPE OF PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY

Российский кардиологический журнал, 2015
Aim. To reveal the associations of polymorphic genes variants coding the proteins of sympathoadrenal system (ADRB1 and ADRB2) with clinical phenotype of the disease including age and gender of patients with HCMP.Material and methods.
S. M. Komissarova, S. S. Nyazova, N. N. Chakova, O. V. Krasko   +3 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Expression of Genetic Polymorphism of TMPRSS2 Gene (Rs12329760) in Different Ethnicities of Prostate Cancer Patients: A Case Control Study

Pakistan Armed Forces Medical Journal
Objective: To determine the frequency and clinical relevance of the TMPRSS2 gene polymorphism (rs12329760) in prostate cancer patients of different ethnicities. Study Design: Case-control study.
Saadia Sadiq, Amena Rahim, Muhammad Afzal, Sahar Ikram, Tehseen Ashraf Kohistani, Farzana Munir   +5 more
doaj   +1 more source

Аldosterone synthetase gene (CYP11B2) polymorphism and structural parameters of the left ventricle in patients with coronary heart disease, postinfarction cardiosclerosis

Zaporožskij Medicinskij Žurnal, 2017
Purpose of the work – to investigate the possible contribution of aldosterone synthetase gene (CYP11B2) polymorphism to the disease course and structural parameters of LV in patients with coronary heart disease, postinfarction cardiosclerosis ...
M. N. Dolzhenko, V. Ye. Dosenko, L. Ye. Lobach   +2 more
doaj   +1 more source