Results 21 to 30 of about 473,993 (259)

Single Nucleotide Polymorphisms of XRCC1 and the Risk of Head and Neck Cancer [PDF]

Journal of Clinical and Diagnostic Research, 2018
Introduction: Head and Neck Cancers (HNCs) accounts for more than 550,000 cases and 380,000 deaths annually, worldwide. Overall, 57.5% of global HNCs occur in Asia especially in India in both sexes.
VV Narayana Rao, Sailaja Boddikuri, Vishnuvardhan Zakkula, Madan Ranjith Pusapati, Kereena Chukka   +4 more
doaj   +1 more source

The Evolution of the Sickle Cell Anaemia in the Region of Kinshasa: a Mathematic Modelling

Hipotenusa, 2022
We attempt to study the evolution of the sickle cell anaemia in the region of Kinshasa by proposing three models based on Markov processes.  The first two models namely, the idealistic and the quasi- idealistic models fail to completely describe the data
R.Gilles Bokolo, Cedric Musema Sinamuli, Dibere Kodondi, Bruce Shola Mafuta   +3 more
doaj   +1 more source

Mutation of CCR5 Delta 32 in Umbilical Cord Blood Samples: Future Potential for HIV-1 Cure [PDF]

Journal of Clinical and Diagnostic Research, 2020
Introduction: Human Immune Deficiency (HIV) virus is a highly mutagenic virus with diverse antigenic types and subtypes. Long latency leading to persistence in infected cell as provirus which poses great problem in developing HIV cure.
Vinayak Virupaksh Kedage, Satyen Yash Sanghavi, Tripti U Gaunkar, Ravi Kumar Bonthala   +3 more
doaj   +1 more source

Assessment of SNP and InDel Variations Among Rice Lines of Tulaipanji x Ranjit

Rice Science, 2017
Genotyping by sequencing (GBS) is the recent approach of next-generation sequencing technique for discovering and genotyping single nucleotide polymorphisms (SNPs) in crop species.
Subhas Chandra Roy, Vijaya Bhasker Reddy Lachagari   +1 more
doaj   +1 more source

Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease

, 2023
Sui-Yi Xu,1,* Hui-Juan Li,2,* Shun Li,2 Qian-Qian Ren,1 Jian-Lin Liang,1 Chang-Xin Li1 1Department of Neurology, Headache Center, The First Hospital of Shanxi Medical University, Taiyuan, People’s Republic of China; 2Center for Medical Genetics &
Xu SY, Li S, Li CX, Li HJ, Ren QQ, Liang JL   +5 more
core  

Heterozygous ATP2A2 missense variant identified in a Shih Tzu with Darier disease. [PDF]

, 2023
Darier disease is caused by heterozygous loss of function variants in the ATP2A2 gene encoding the endoplasmic/sarcoplasmic reticulum Ca2+ pump ATP2A2.
Rich, Naomi, Mauldin, Elizabeth A, Vidhya Jagannathan, Elizabeth A. Mauldin, Jagannathan, Vidhya, Kiener, Sarah, Leeb, Tosso, Ching Yang, Naomi Rich, Tosso Leeb, Yang, Ching, Sarah Kiener   +11 more
core   +2 more sources

Somatic clones heterozygous for recessive disease alleles of BMPR1A exhibit unexpected phenotypes in Drosophila

eLife, 2018
The majority of mutations studied in animal models are designated as recessive based on the absence of visible phenotypes in germline heterozygotes. Accordingly, genetic studies primarily rely on homozygous loss-of-function to determine gene requirements,
Takuya Akiyama, Sırma D User, Matthew C Gibson   +2 more
doaj   +1 more source

Production of heterozygous and homozygous clones in Nile tilapia

, 1998
Production of heterozygous and homozygous clones of Nile tilapia (Oreochromis niloticus L.) was successfully carried out. An outbred clonal line was produced by cross-breeding between a viable mitotic gynogenetic female and male (recessive mutation in a ...
Hussain, M Gulam, Penman, David, McAndrew, Brendan   +2 more
core   +1 more source

Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia [PDF]

, 2018
Mutations in the genes for the low-density lipoprotein receptor (LDLR), apolipoprotein B, and proprotein convertase subtilisin/kexin type 9 have been reported to cause heterozygous and homozygous familial hypercholesterolemia (FH).
Hopkins, Paul N., Stefanutti, Claudia, Seiz, Werner, Banerjee, Poulabi, John J.P. Kastelein, Baccara-Dinet, Marie T., Sara Hamon, Defesche, Joep C., Gisle Langslet, Marie T. Baccara-Dinet, Poulabi Banerjee, Paul N. Hopkins, Werner Seiz, Langslet, Gisle, Joep C. Defesche, Hamon, Sara, Hartgers, Merel L., Merel L. Hartgers, Claudia Stefanutti, Kastelein, John J. P.   +19 more
core   +2 more sources

Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

, 2014
Class IA phosphatidylinositol 3-kinases (PI3K), which generate PIP3 as a signal for cell growth and proliferation, exist as an intracellular complex of a catalytic subunit bound to a regulatory subunit.
ÖZEN, AHMET OĞUZHAN
core   +1 more source