Results 61 to 70 of about 3,013,569 (257)

Association of NFKB1, NKX2-5, GATA4 and RANKL gene polymorphisms with sporadic congenital heart disease in Greek patients

Balkan Journal of Medical Genetics, 2021
Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults.
Aidinidou L, Chatzikyriakidou A, Giannopoulos A, Karpa V, Tzimou I, Aidinidou E, Fidani L   +6 more
doaj   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source

Association study of suicidal behavior and affective disorders with a genetic polymorphism in ABCG1, a positional candidate on chromosome 21q22.3 [PDF]

, 2000
The gene that codes for the ABC transporter ABCG1 is located in a chromosomal susceptibility region (21q22.3) for affective disorders. Genetic variations in ABCG1 have been associated with affective disorders in Japanese males.
Bondy, Brigitta, Anghelescu, I., Dahmen, N., Szegedi, A., Gietl, A., Schäfer, M., Müller-Siecheneder, F., Möller, Hans-Jürgen, Rujescu, Dan, Giegling, Ina   +9 more
core   +1 more source

Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes

FEBS Open Bio, EarlyView.
Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard, Emma‐Jayne Proctor, Jiawa Wang, Nikolas P. Johnston, Andrew Hayes, Georgia McCorkell, Haibo Yu, Jai Tree, Mark R. Davies, Mark J. Walker, Ronald Sluyter, Stephan Brouwer, Martina L. Sanderson‐Smith   +12 more
wiley   +1 more source

Association of FcγRIIa R131H polymorphism with idiopathic pulmonary fibrosis severity and progression [PDF]

, 2010
Background A significant genetic component has been described for idiopathic pulmonary fibrosis (IPF). The R131H (rs1801274) polymorphism of the IgG receptor FcγRIIa determines receptor affinity for IgG subclasses and is associated with several chronic ...
Hart Simon P, Wallace, William A., McFarlane, Pauline, Bournazos, Stylianos, Bournazos Stylianos, Alexander, Karen M, Karen M Alexander, Jacob Grinfeld, William A Wallace, Simpson A John, Hirani, Nikhil, McFarlane Pauline, Pauline McFarlane, Grinfeld Jacob, Grinfeld, Jacob, Hirani Nikhil, Simpson, A John, John T Murchison, Nikhil Hirani, Wallace William A, Hart, Simon P, Simpson, A. John, Dransfield, Ian, Stylianos Bournazos, Murchison John T, Alexander Karen M, Murchison, John T, Wallace, William, Ian Dransfield, Dransfield Ian, A John Simpson, Simon P Hart   +31 more
core   +2 more sources

Osteopontin, Bone Morphogenetic Protein-4, and Vitamin D Receptor Gene Polymorphisms in the Susceptibility and Clinical Severity of Spinal Tuberculosis

Cellular Physiology and Biochemistry, 2017
Background/Aims: Spinal tuberculosis (TB) is a common and dangerous form of extrapulmonary TB with unclear mechanisms in its occurrence and progression.
Guohua Wang, Liangyi Xie, Jianzhong Hu, Hongbin Lu, Xiangyang Liu, Yong Cao, Bin Liu, Yi Zhang, Xiongjie Shen   +8 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

Genetic polymorphism of blood proteins in a population of shetland ponies [PDF]

, 1976
Genetic variation of proteins (protein polymorphism) is widespread among many animal species. The biological significance of protein polymorphism has been the subject of many studies.
Buis, R.C.
core  

Investigation of resistin 420 and 62 gene polymorphism in patients with endometrial cancer

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We aimed to assess resistin gene polymorphisms, namely 420C > G and 62G > A and their effect on the risk of endometrial cancer (EC). Materials and methods: Between January 2012 and January 2015, of the total of 183 patients diagnosed with EC ...
Bahar Yuksel Ozgor, Cem Iyibozkurt, Ercan Bastu, Sinan Berkman, Onay Yalcın, Bedia Cakmakoglu, Halil Saygılı   +6 more
doaj   +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