Results 31 to 40 of about 4,885,439 (330)

THE ROLE OF GENETICS IN MODERN MEDICINE

Байкальский медицинский журнал, 2022
The lecture examines the role of modern genetics and its significance for medicine. The goals of genetics and its structure are determined. It is shown that modern medical genetics is divided into general genetics, clinical genetics and laboratory ...
Elena Anatolyevna Tkachuk, Igor Zhanovich Seminsky   +1 more
doaj   +1 more source

Schlafen-5 inhibits LINE-1 retrotransposition

iScience, 2023
Summary: Long interspersed element 1 (LINE-1) is the only currently known active autonomous transposon in humans, and its retrotransposition may cause deleterious effects on the structure and function of host cell genomes and result in sporadic genetic ...
Jiwei Ding, Shujie Wang, Qipeng Liu, Yuqing Duan, Tingting Cheng, Zhongjie Ye, Zhanding Cui, Ao Zhang, Qiuyu Liu, Zixiong Zhang, Ning Zhang, Qian Liu, Ni An, Jianyuan Zhao, Dongrong Yi, Quanjie Li, Jing Wang, Yongxin Zhang, Ling Ma, Saisai Guo, Jinhui Wang, Chen Liang, Jinming Zhou, Shan Cen, Xiaoyu Li   +24 more
doaj   +1 more source

Using the molecular genetics methods for studying the peculiarities of muscle activity and inherited predisposition in the sport [PDF]

Pedagogics, Psychology, Medical-Biological Problems of Physical Training and Sports, 2013
Analyzes of the methods used in sports genetics, and molecular genetics of muscle activity in particular are considered. The historical retrospective review of sports genetics methods was created.
S.B. Drozdovska
doaj   +2 more sources

The Hippo pathway uses different machinery to control cell fate and organ size

iScience, 2021
Summary: The Hippo pathway is a conserved signaling network that regulates organ growth and cell fate. One such cell fate decision is that of R8 photoreceptor cells in the Drosophila eye, where Hippo specifies whether cells sense blue or green light.
Jonathan M. Pojer, Samuel A. Manning, Benjamin Kroeger, Shu Kondo, Kieran F. Harvey   +4 more
doaj   +1 more source

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

British Journal of Ophthalmology, 2019
Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous group of inherited retinal diseases characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss.
J. Gill, M. Georgiou, A. Kalitzeos, A. Moore, M. Michaelides   +4 more
semanticscholar   +1 more source

YAP regulates alveolar epithelial cell differentiation and AGER via NFIB/KLF5/NKX2-1

iScience, 2021
Summary: Ventilation is dependent upon pulmonary alveoli lined by two major epithelial cell types, alveolar type-1 (AT1) and 2 (AT2) cells. AT1 cells mediate gas exchange while AT2 cells synthesize and secrete pulmonary surfactants and serve as ...
Jason J. Gokey, John Snowball, Anusha Sridharan, Parvathi Sudha, Joseph A. Kitzmiller, Yan Xu, Jeffrey A. Whitsett   +6 more
doaj   +1 more source

The molecular genetics of sideroblastic anemia.

Blood, 2019
The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders defined by pathological iron accumulation in the mitochondria of erythroid precursors.
S. Ducamp, M. Fleming
semanticscholar   +1 more source

ISSUES WITH GENE CONCEPT [PDF]

Filozofia i Nauka, 2019
This article provides an initial analysis, from a historical standpoint, of the problematic nature of conceptualizations of the notion of gene in molecular genetics.
Aleksander A. Ziemny
doaj  

The Molecular Genetics of Myeloproliferative Neoplasms.

Cold Spring Harbor Perspectives in Medicine, 2019
Activated JAK-STAT signaling is central to the pathogenesis of BCR-ABL-negative myeloproliferative neoplasms (MPNs) and occurs as a result of MPN phenotypic driver mutations in JAK2, CALR, or MPL The spectrum of concomitant somatic mutations in other ...
A. Marneth, A. Mullally
semanticscholar   +1 more source

Survival for Children Diagnosed With Wilms Tumour (2012–2022) Registered in the UK and Ireland Improving Population Outcomes for Renal Tumours of Childhood (IMPORT) Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The Improving Population Outcomes for Renal Tumours of childhood (IMPORT) is a prospective clinical observational study capturing detailed demographic and outcome data on children and young people diagnosed with renal tumours in the United Kingdom and the Republic of Ireland.
Naomi Ssenyonga, Angela Lopez‐Cortes, Reem Al‐Saadi, Suzanne Tugnait, Kristina Dzhuma, Catriona Duncan, Gordan Vujanic, Tanzina Chowdhury, Claudia Allemani, Michel P. Coleman, Kathy Pritchard‐Jones, the Children's Cancer and Leukaemia Group (CCLG) Renal Tumour Special Interest Group, Hugh Bishop, Anthony McCarthy, Pamela Kearns, Helen Rees, Amos Burke, Meriel Jenney, Jane Pears, Hamish Wallace, Milind Ronghe, Tanzina Chowdhury, Susan Picton, Emma Ross, Lisa Howell, Bernadette Brennan, Gail Halliday, Richard Grundy, Shaun Wilson, Sucheta Vaidya, Daniel Yeomanson, Jessica Bate, Vesna Pavasovic, Jessica Bate, Sabine Irtan, Jesper Brok, Minou Oostveen, Kristina Dzhuma, Mark Weeks, Richard Williams, Mark Powis, Max Pachl, Bruce Okoye, Naima Smeulders, Gordan Vujanic, Oystein Olsen, Tom Watson, Susan Shelmerdine, Dan Saunders, Angela Lopez-Cortes, Taryn Treger, Tom Jackson, Suzanne Tugnait, Lisa Howell, Tanzina Chowdhury, Sam Behjati, Angela Polanco   +56 more
wiley   +1 more source