Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Rubina Dad"'
Autor:
Muhammad Ikram Ullah, Zaira Rehman, Rubina Dad, Abdullah Alsrhani, Muhammad Shakil, Heba Bassiony Ghanem, Ayman Ali Mohammed Alameen, Mohamed Farouk Elsadek, Lienda Bashier Eltayeb, Sajjad Ullah, Muhammad Atif
Publikováno v:
Life, Vol 13, Iss 8, p 1788 (2023)
Congenital cataract (CC) causes a third of the cases of treatable childhood blindness worldwide. CC is a disorder of the crystalline lens which is established as clinically divergent and has complex heterogeneity. This study aimed to determine the ge
Externí odkaz:
https://doaj.org/article/28a97d32d3bf434c8e8af690b9c368c1
Publikováno v:
Life and Science, Vol 1, Iss 2, Pp 3-3 (2020)
Rett syndrome is a rare inherited neurodegenerative disease which mostly affects females but has a lethal impact on males. Rett syndrome is mostly caused by mutations of Methyl CpG binding protein-2 (MECP2) gene located on chromosome Xq28. A 7-year
Externí odkaz:
https://doaj.org/article/39a4ad4cb5514da2a90a202bb59e5699
Publikováno v:
NUST Journal of Natural Sciences. 7
The phosphate group present in the ATP (adenosine triphosphate) is transferred to the hydroxy group-containing tyrosine, serine, or threonine residue by the protein kinases encoded in the human genome. Till now, a large number of these kinases have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ff0db058f1953f889e161a855bbfef9
https://doi.org/10.53992/njns.v7i1.90
https://doi.org/10.53992/njns.v7i1.90
Publikováno v:
Gene. 626:258-263
Beta-1,4-N-acetyl galactosaminyltransferase 1, B4GALNT1, is a GM2/GD2 synthase, involved in the expression of glycosphingolipids (GSLs) containing sialic acid. Mutations in the gene B4GALNT1 cause Hereditary Spastic Paraplegia 26 (HSP26). In present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8036b54c5db9007ac31c0820250ed34a
https://doi.org/10.1016/j.gene.2017.05.041
https://doi.org/10.1016/j.gene.2017.05.041
Autor:
Christian A. Hübner, Muhammad Ikram Ullah, Rubina Dad, Arsalan Ahmad, Muhammad Jawad Hassan, Amjad Ali, Peter John, Sarmad Mehmood, Aisha Mohyuddin
Publikováno v:
Computational biology and chemistry. 89
Congenital insensitivity to pain (CIP), classified as a type of hereditary sensory and autonomic neuropathies, is a rare disease in which the affected individuals fail to perceive sensation of pain. One of the PR/SET Domain Proteins, PRDM12, has been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d83b50564635174ec969c32f4c6cac1
https://pubmed.ncbi.nlm.nih.gov/33010785
https://pubmed.ncbi.nlm.nih.gov/33010785
Publikováno v:
Life and Science. 1:3
Rett syndrome is a rare inherited neurodegenerative disease which mostly affects females but has a lethal impact on males. Rett syndrome is mostly caused by mutations of Methyl CpG binding protein-2 (MECP2) gene located on chromosome Xq28. A 7-year g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9dcd4b1e9b2ac0c62a5d45ecc5372efe
https://doi.org/10.37185/lns.1.1.77
https://doi.org/10.37185/lns.1.1.77
Publikováno v:
E3S Web of Conferences, Vol 185, p 04067 (2020)
The use of medicinal plants for cure, treatment and control of diseases is one of the ancient forms of medical practice in mankind history. The 80% population of underdeveloped nations is still dependent on traditional medicinal remedy for its basic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cb3cc9e6e76760038d4eebbde8ff8c1
https://doi.org/10.1051/e3sconf/202018504067
https://doi.org/10.1051/e3sconf/202018504067
Autor:
Susan, Walker, Rubina, Dad, Bhooma, Thiruvahindrapuram, Muhammed Ikram, Ullah, Arsalan, Ahmad, Muhammad Jawad, Hassan, Stephen W, Scherer, Berge A, Minassian
Publikováno v:
Neurology: Genetics
Objective To determine a molecular diagnosis for a large multigenerational family of South Asian ancestry with seizures, hyperactivity, and episodes of tongue biting. Methods Two affected individuals from the family were analyzed by whole-genome sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9880c66789659178be8278bee7b35f4e
https://pubmed.ncbi.nlm.nih.gov/29845114
https://pubmed.ncbi.nlm.nih.gov/29845114
Autor:
Rubina Dad, M. Jawad Hassan, Anna Mikhailov, John B. Vincent, Ricardo Harripaul, Humaira Aziz Sawal, Muhammad Ayub
Publikováno v:
Clinical Genetics. 90:563-565
(a) Homozygosity-mapping-by-descent of four Bhakkar congenital indifference/insensitivity to pain (CIP) families. (b) Identification of mutation Met1190* in SCN9A. (c) SCN9A/NaV1.7 2D structure (as predicted by CCTOP and SMART) and approximate positi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::914ab95552ee76c544609789531c83ec
https://doi.org/10.1111/cge.12860
https://doi.org/10.1111/cge.12860
Autor:
Rubina Dad, Muhammad Jawad Hassan, Suk Yun Kang, Susan Walker, Berge A. Minassian, Stephen W. Scherer
Publikováno v:
Neurology: Genetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a4b3331314cc27ebb8a9ce20cd8baa
http://europepmc.org/articles/PMC5610043
http://europepmc.org/articles/PMC5610043