Results 1 to 10 of about 364,524 (120)

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

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

The Key Role of Glutamate Dehydrogenase 2 (GDH2) in the Control of Kernel Production in Maize (Zea mays L.)

Plants, 2023
The agronomic potential of glutamate dehydrogenase 2 (GDH2) in maize kernel production was investigated by examining the impact of a mutation on the corresponding gene.
Thérèse Tercé-Laforgue, Jérémy Lothier, Anis M. Limami, Jacques Rouster, Peter J. Lea, Bertrand Hirel   +5 more
doaj   +1 more source

Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review

Frontiers in Genetics, 2022
Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The GCH1 gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin ...
Yun Chen, Kaiyu Liu, Zailan Yang, Yaozhou Wang, Hao Zhou   +4 more
doaj   +1 more source

Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series

Frontiers in Genetics, 2020
Homozygous familial hypercholesterolemia (HoFH) and compound heterozygous familial hypercholesterolemia (cHeFH) are rare disorders generated by disease-causing variants in both alleles of the LDLR or other familial hypercholesterolemia (FH)-related genes.
Tatiana Marusic, Ursa Sustar, Fouzia Sadiq, Vjosa Kotori, Matej Mlinaric, Jernej Kovac, Saeed Shafi, Iqbal Khan, Iqbal Khan, Matija Cevc, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Tadej Battelino, Tadej Battelino, Urh Groselj, Urh Groselj   +15 more
doaj   +1 more source

Evaluation of biofilm formation in the homozygous and heterozygous strains of vaginal Candida albicans isolates [PDF]

Current Medical Mycology, 2019
Background and Purpose: Candida albicans is one of the most opportunistic yeasts around the world. This species has two heterozygous and homozygous strains at hyphal wall protein 1 (hwp1) gene locus.
Keyvan Pakshir, Sahar Sheykhi, Kamiar Zomorodian, Hasti Nouraei, Zahra Zareshahrabadi   +4 more
doaj   +1 more source

Gene Frequency of ABO Blood Group and Rh Factor Allele among the People of Sylhet, Bangladesh. [PDF]

Journal of Epigenetics
Knowledge of blood grouping is very important, especially for safer blood transfusions. The blood group and Rh factor of an individual is determined by the presence or absence of different antigens and Rh factor on the surface of the RBC, respectively ...
Sharmin Akter, Abdullah Al Sad, Md. Khademul Islam, Saima Effath Rahman Mim   +3 more
doaj   +1 more source

The c.3140-26A>G Variant of the CFTR Gene in Homozygous State Causes Mild Cystic Fibrosis – Overview of Longitudinal Clinical Data of the Patient Managed in our CF Center and Review of the Literature

Acta Chimica Slovenica, 2020
There are over 70.000 patients with cystic fibrosis (CF) in the world and numerous sequence variations in the CFTR gene have been reported but the clinical significance of all of them is still not known.
Ana Kotnik Pirš, Uroš Krivec, Katarina Trebušak Podkrajšek   +2 more
doaj   +1 more source

Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants

Frontiers in Physiology, 2020
Tooth agenesis is one of the most common orodental anomalies that demonstrate phenotypic and genotypic heterogeneity with a prevalence of 2.5%–7%. Mutations in WNT10A have been proposed to be the most common cause of nonsyndromic tooth agenesis (NSTA ...
Charinya Kanchanasevee, Kanokwan Sriwattanapong, Thanakorn Theerapanon, Sermporn Thaweesapphithak, Wanna Chetruengchai, Wanna Chetruengchai, Thantrira Porntaveetus, Vorasuk Shotelersuk, Vorasuk Shotelersuk   +8 more
doaj   +1 more source

Treatment and Genotypic Characteristics of Patients with Rheumatoid Arthritis [PDF]

BIO Web of Conferences
Rheumatoid arthritis (RA) is a significant problem in modern rheumatology, with many patients failing to achieve remission despite the availability of new treatments. A key approach to addressing this problem is pharmacogenetics, which tailors treatments
Norbutoev Olimjon, Akhmedov Khalmurad, Abdurakhmanova Nargiza, Turaev Ikhtiyor   +3 more
doaj   +1 more source