Novel disease-associated missense single-nucleotide polymorphisms variants predication by algorithms tools and molecular dynamics simulation of human TCIRG1 …
T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3 (TCIRG1 gene provides
instructions for making one part, the a3 subunit, of a large protein complex known as a …
instructions for making one part, the a3 subunit, of a large protein complex known as a …
Computational analysis of sodium-dependent phosphate transporter SLC20A1/PiT1 gene identifies missense variations C573F, and T58A as high-risk deleterious …
Abstract SLC20A1/PiT1 is a sodium-dependent inorganic phosphate transporter, initially
recognized as the retroviral receptor for Gibbon Ape Leukemia Virus in humans. SNPs in …
recognized as the retroviral receptor for Gibbon Ape Leukemia Virus in humans. SNPs in …
In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function
Abstract Hennekam Lymphangiectasia–Lymphedema Syndrome 3 (HKLLS3) is a rare
genetical disorder caused by mutations in a few genes including ADAMTS3. It is …
genetical disorder caused by mutations in a few genes including ADAMTS3. It is …
[HTML][HTML] Novel high-risk missense mutations identification in FAT4 gene causing Hennekam syndrome and Van Maldergem syndrome 2 through molecular dynamics …
Hennekam syndrome (HS) is an autosomal recessive disease in the pathogenesis of which
lymphangiectasia and lymphedema plays a key role. HS is associated with mutations in …
lymphangiectasia and lymphedema plays a key role. HS is associated with mutations in …
In Silico Analysis Revealed Five Novel High‐Risk Single‐Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in …
K Shinwari, MA Bolkov, M Yasir Akbar… - The Scientific World …, 2022 - Wiley Online Library
Single‐nucleotide polymorphisms in the ELANE (Elastase, Neutrophil Expressed) gene are
associated with severe congenital neutropenia, while the ELANE gene provides instructions …
associated with severe congenital neutropenia, while the ELANE gene provides instructions …
[PDF][PDF] Hennekam syndrome: literature review.
AM Messova, KD Akimzhanov, O Yurkovskaya… - 2023 - newjournal.ssmu.kz
Introduction Hennekam syndrome is an autosomal recessive disease with
lymphangiectasia, severe peripheral lymphedema, abnormalities of the face, cramps, mild …
lymphangiectasia, severe peripheral lymphedema, abnormalities of the face, cramps, mild …
In Silico Analysis of Single Nucleotide Polymorphisms Related to Susceptibility and Severity in COVID-19 Patients
Y Ariani, I Muhiardi, F Shabihah - eJournal Kedokteran Indonesia, 2023 - ejki.fk.ui.ac.id
Abstract Coronavirus disease 2019 (COVID-19) is a respiratory tract symptoms caused by
the infection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) which …
the infection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) which …
[HTML][HTML] Introducing a new index for selecting genetic polymorphisms for association studies
N Omidpanah, M Saadat - EXCLI journal, 2022 - ncbi.nlm.nih.gov
As a result of the introduction and development of next-generation sequencing technologies,
enormous genetic alterations have been detected in the human genome. Some of these …
enormous genetic alterations have been detected in the human genome. Some of these …
[PDF][PDF] Khyber Shinwari, Mikhail A. Bolkov, Muhammad Yasir Akbar, 3 Liu Guojun, 4
SS Deryabina, IA Tuzankina, VA Chereshnev - 2022 - academia.edu
Single-nucleotide polymorphisms in the ELANE (Elastase, Neutrophil Expressed) gene are
associated with severe congenital neutropenia, while the ELANE gene provides instructions …
associated with severe congenital neutropenia, while the ELANE gene provides instructions …