Results 31 to 40 of about 53,853 (212)

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

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

Molecular genetics of astrocytomas

Anales del Sistema Sanitario de Navarra, 2009
Astrocytomas are the most frequent group of intracranial tumors. Among them, glioblastoma is the most aggressive one. In this review we will describe the most common genetic abnormalities found out in astrocytomas. We will refer to the epidermal growth factor receptor (EGFR), p53, p16, PTEN and DMBT1 genes.
J, Muñoz, X, Fan, M M, Inda, J, Sáez-Castresana   +3 more
openaire   +3 more sources

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

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

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  

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Germline polymorphisms and alternative splicing of human immunoglobulin light chain genes

iScience, 2021
Summary: Inference of germline polymorphisms in immunoglobulin genes from B cell receptor repertoires is complicated by somatic hypermutations, sequencing/PCR errors, and by varying length of reference alleles.
Ivana Mikocziova, Ayelet Peres, Moriah Gidoni, Victor Greiff, Gur Yaari, Ludvig M. Sollid   +5 more
doaj   +1 more source

Molecular genetics of AML [PDF]

Best Practice & Research Clinical Haematology, 2012
In the past decade, a series of technological advances have revolutionized our ability to interrogate cancer genomes, culminating in whole-genome sequencing, which provides genome-wide coverage at a single base-pair resolution. To date, the tumor genome has been sequenced in nearly 40 cases of acute myeloid leukemia (AML).
openaire   +2 more sources