Hereditary Disorders | List of Frontiers open access articles

Original Research

Published on 10 Jan 2023

Computational approaches for discovering significant microRNAs, microRNA-mRNA regulatory pathways, and therapeutic protein targets in endometrial cancer

in Computational Genomics

Ghada Ajabnoor
Fai Alsubhi
Thoraia Shinawi
Wisam Habhab
Walaa F. Albaqami
Hussain S. Alqahtani
Hisham Nasief
Nabeel Bondagji
Ramu Elango
Noor Ahmad Shaik

Frontiers in Genetics

doi 10.3389/fgene.2022.1105173

5,288 views
9 citations

Original Research

Published on 16 Nov 2022

A comparative mRNA- and miRNA transcriptomics reveals novel molecular signatures associated with metastatic prostate cancers

in Computational Genomics

Thoraia Shinawi
Khalidah Khalid Nasser
Fatima Amanullah Moradi
Abdulrahman Mujalli
Walaa F. Albaqami
Haifa S. Almukadi
Ramu Elango
Noor Ahmad Shaik
Babajan Banaganapalli

Frontiers in Genetics

doi 10.3389/fgene.2022.1066118

4,992 views
11 citations

Original Research

Published on 14 Dec 2022

Bioinformatics insights into the genes and pathways on severe COVID-19 pathology in patients with comorbidities

in Integrative Physiology

Abdulrahman Mujalli
Kawthar Saad Alghamdi
Khalidah Khalid Nasser
Nuha Al-Rayes
Babajan Banaganapalli
Noor Ahmad Shaik
Ramu Elango

Frontiers in Physiology

doi 10.3389/fphys.2022.1045469

5,915 views
7 citations

Original Research

Published on 20 Nov 2024

Protein trans-splicing: optimization of intein-mediated GFP assembly as a model for the development of gene therapy

in Cell and Gene Therapy

Andrew Brovin
Ekaterina Minskaia
Matvei Sabantsev
Sergey Chuvpilo
Alexander Karabelsky

Frontiers in Bioengineering and Biotechnology

doi 10.3389/fbioe.2024.1488912

6,689 views
4 citations

Original Research

Published on 04 Jul 2023

Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis

in Biophysics

Noor Ahmad Shaik
Najla Al-Shehri
Mohammad Athar
Ahmed Awan
Mariam Khalili
Hadiah Bassam Al Mahadi
Gehan Hejazy
Omar I. Saadah
Sameer Eida Al-Harthi
Ramu Elango

Frontiers in Physiology

doi 10.3389/fphys.2023.1204018

6,118 views
3 citations

Original Research

Published on 20 Nov 2024

Exploring somatic mutations in BRAF, KRAS, and NRAS as therapeutic targets in Saudi colorectal cancer patients through massive parallel sequencing and variant classification

in Experimental Pharmacology and Drug Discovery

Thamer Abdulhamid Aljuhani
Noor Ahmad Shaik
Rahaf Talal Alqawas
Rana Y. Bokhary
Mahmood Al-Mutadares
Hadiah Bassam Al Mahdi
Nuha Al-Rayes
Ashraf AbdulRahman El-Harouni
Ramu Elango
Babajan Banaganapalli

Frontiers in Pharmacology

doi 10.3389/fphar.2024.1498295

3,292 views
2 citations

Original Research

Published on 24 Nov 2022

Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency

in Biophysics

Noor Ahmad Shaik
Najla Bint Saud Al-Saud
Thamer Abdulhamid Aljuhani
Kaiser Jamil
Huda Alnuman
Deema Aljeaid
Nasreen Sultana
Ashraf AbdulRahman El-Harouni
Zuhier Ahmed Awan
Ramu Elango

Frontiers in Molecular Biosciences

doi 10.3389/fmolb.2022.1051511

5,335 views
5 citations

Mini Review

Published on 26 Nov 2012

Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders

in RNA

Antonius Plagge

Frontiers in Genetics

doi 10.3389/fgene.2012.00264

8,095 views
11 citations

Original Research

Published on 03 Dec 2020

Knowledge, Awareness, and Perception of Genetic Testing for Hereditary Disorders Among Malaysians in Klang Valley

in ELSI in Science and Genetics

Jia-Jia Chin
Hong-Wai Tham

Frontiers in Genetics

doi 10.3389/fgene.2020.512582

20,068 views
30 citations

Mini Review

Published on 19 Jun 2019

Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding

in Atherosclerosis and Vascular Medicine

Ibrahim Almazni
Rachel Stapley
Neil V. Morgan

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2019.00080

48,572 views
60 citations

Case Report

Published on 09 May 2024

A case report: Gliosarcoma associated with a germline heterozygous mutation in MSH2

in Neuro-Oncology and Neurosurgical Oncology

Yuhan Wang
Zhiyuan Zhang

Frontiers in Neurology

doi 10.3389/fneur.2024.1388263

2,470 views

Review

Published on 07 Dec 2018

Autism, Joint Hypermobility-Related Disorders and Pain

in Child and Adolescent Psychiatry

Carolina Baeza-Velasco
David Cohen
Claude Hamonet
Elodie Vlamynck
Lautaro Diaz
Cora Cravero
Emilie Cappe
Vincent Guinchat

Frontiers in Psychiatry

doi 10.3389/fpsyt.2018.00656

169,604 views
57 citations

Original Research

Published on 10 Mar 2023

Combining machine learning and structure-based approaches to develop oncogene PIM kinase inhibitors

in Medicinal and Pharmaceutical Chemistry

Haifa Almukadi
Gada Ali Jadkarim
Arif Mohammed
Majid Almansouri
Nasreen Sultana
Noor Ahmad Shaik
Babajan Banaganapalli

Frontiers in Chemistry

doi 10.3389/fchem.2023.1137444

5,156 views
5 citations

Review

Published on 26 Apr 2023

Paget’s disease: a review of the epidemiology, etiology, genetics, and treatment

in Genetics of Common and Rare Diseases

Babajan Banaganapalli
Ibrahim Fallatah
Fai Alsubhi
Preetha Jayasheela Shetty
Zuhier Awan
Ramu Elango
Noor Ahmad Shaik

Frontiers in Genetics

doi 10.3389/fgene.2023.1131182

27,189 views
31 citations

Review

Published on 26 Aug 2025

Epidemiological landscape and genetic prospects for marker-assisted selection in Kazakh sheep

in Veterinary Epidemiology and Economics

Shynggys Orkara
Aigerim Khamzina
Nurlan Sandybayev
Rano Sattarova
Ainur Davletova
Kadyrzhan Khamzin
Kisun Pokharel
Primkul Ibragimov
Nadezhda Burambayeva
Darkhan Smagulov

Frontiers in Veterinary Science

doi 10.3389/fvets.2025.1647959

2,734 views

Mini Review

Published on 25 Nov 2021

Prime Editing for Inherited Retinal Diseases

in Genome Engineering and Neurologic Disorders

Bruna Lopes da Costa
Sarah R. Levi
Eric Eulau
Yi-Ting Tsai
Peter M. J. Quinn

Frontiers in Genome Editing

doi 10.3389/fgeed.2021.775330

13,195 views
30 citations

Articles

Computational approaches for discovering significant microRNAs, microRNA-mRNA regulatory pathways, and therapeutic protein targets in endometrial cancer

A comparative mRNA- and miRNA transcriptomics reveals novel molecular signatures associated with metastatic prostate cancers

Bioinformatics insights into the genes and pathways on severe COVID-19 pathology in patients with comorbidities

Protein trans-splicing: optimization of intein-mediated GFP assembly as a model for the development of gene therapy

Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis

Exploring somatic mutations in BRAF, KRAS, and NRAS as therapeutic targets in Saudi colorectal cancer patients through massive parallel sequencing and variant classification

Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency

Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders

Knowledge, Awareness, and Perception of Genetic Testing for Hereditary Disorders Among Malaysians in Klang Valley

Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding

A case report: Gliosarcoma associated with a germline heterozygous mutation in MSH2

Autism, Joint Hypermobility-Related Disorders and Pain

Combining machine learning and structure-based approaches to develop oncogene PIM kinase inhibitors

Paget’s disease: a review of the epidemiology, etiology, genetics, and treatment

Epidemiological landscape and genetic prospects for marker-assisted selection in Kazakh sheep

Prime Editing for Inherited Retinal Diseases