Current updates on genetic spectrum of usher syndrome

F Ullah, M Zeeshan Ali, S Ahmad… - … Nucleotides & Nucleic …, 2024 - Taylor & Francis
Usher syndrome (USH) is a genetic disorder that is characterized by sensorineural hearing
loss (HL) and visual abnormality, ie, loss of night vision and side (peripheral) vision. Usher …

In Silico-Based Structural Evaluation to Categorize the Pathogenicity of Mutations Identified in the RAD Class of Proteins

A Anwaar, AK Varma, R Baruah - ACS omega, 2023 - ACS Publications
RAD genes, known as double-strand break repair proteins, play a major role in maintaining
the genomic integrity of a cell by carrying out essential DNA repair functions via double …

Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families

I Ahmed, M Muzammal, MA Khan, H Ullah, A Farid… - Biochemical …, 2024 - Springer
Intellectual disability, a genetically and clinically varied disorder and is a significant health
problem, particularly in less developed countries due to larger family size and high ratio of …

[HTML][HTML] Changes in SLITRK1 Level in the Amygdala Mediate Chronic Neuropathic Pain-Induced Anxio-Depressive Behaviors in Mice

R Chu, Y Lu, X Fan, C Lai, J Li, R Yang… - Journal of Integrative …, 2024 - imrpress.com
Background: Comorbid chronic neuropathic pain (NPP) and anxio-depressive disorders
(ADD) have become a serious global public-health problem. The SLIT and NTRK-like 1 …

The relationship between ACE gene insertion/deletion polymorphism and diabetes retinopathy patients with diabetes type 1

H Zafar, IR Malik, H Bushra, K Alam, M Shakeel… - International Journal of …, 2024 - Springer
Background Diabetes type 1 is an autoimmune metabolic disorder in which auto antibodies
attack pancreatic β cells, results in hyperglycemia. Diabetes retinopathy linked to diabetes …

Whole exome sequencing coupled with in silico functional analysis identified NID1 as a novel candidate gene causing neuro-psychiatric disorder in a Pakistani family

M Muzammal, S Ahmad, MZ Ali… - Journal of the …, 2024 - account.jnsfsl.sljol.info
Intellectual disability (ID) is a neuro-developmental condition that affects a person's cognitive
ability and results in a learning defect. It affects 1–3% of the general population; however …

Whole exome sequencing coupled with in silico functional analysis identified NID1 as a novel candidate gene causing neuro-psychiatric disorder in a Pakistani family

M Muzammal, S Ahmad, MZ Ali, S Fatima… - Journal of the National …, 2024 - jnsfsl.sljol.info
Intellectual disability (ID) is a neuro-developmental condition that affects a person's cognitive
ability and results in a learning defect. It affects 1–3% of the general population; however …

[PDF][PDF] Significance Of Genetic Polymorphisms In Autoimmune Diseases: A Comprehensive Review

K Ramzan, A Noman, S Ramzan, AH Ali, A Waheed… - researchgate.net
The human genome innovation is becoming more accessible owing to breakthroughs in
DNA sequencing. Due to the massive variety of mutations, interpreting genetic variation is …

[PDF][PDF] Abasyn Journal of Life Sciences Open Access

M Muzammal, MA Khan, S Fatima, A Bibi, S Raheela… - 2022 - researchgate.net
In the present study, we performed in silico analysis on all reported mutations of PRODH in
order to investigate their biological significance. 3D models of wildtype and mutant PRODH …

Γενετικές παραλλαγές στις περιοχές που κωδικοποιούν τις επικράτειες αλληλεπίδρασης SLITRK1 και PTPRD και συσχέτιση με το Σύνδρομο Tourette

Γ Κωνσταντίνου - repo.lib.duth.gr
Tourette syndrome is a neuropsychiatric multifactorial disease characterized by chronic
vocal and motor muscle spasms (tics). The origin of its clinical phenotype is still unclear …