Memoona Shaukat
Overview
Explore the profile of Memoona Shaukat including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
45
Followers
0
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Recent Articles
1.
Eichstaedt C, Maldonado-Velez G, Machado R, Balachandar S, Coulet F, Day K, et al.
medRxiv
. 2024 Dec;
PMID: 39649591
Purpose: Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by pathogenic variants, most frequently in the bone morphogenetic protein receptor type 2 ( ) gene. We...
2.
Eichstaedt C, Haas S, Shaukat M, Grunig E
Curr Opin Pulm Med
. 2024 Jun;
30(5):429-436.
PMID: 38913028
Purpose Of Review: To provide a comprehensive overview of the underlying genetic defects of pulmonary (vascular) diseases and novel treatment avenues. Recent Findings: Pulmonary arterial hypertension (PAH) is the prime...
3.
Eichstaedt C, Shaukat M, Grunig E
Inn Med (Heidelb)
. 2024 May;
65(6):560-565.
PMID: 38771375
Heritable pulmonary arterial hypertension (PAH) can be triggered by at least 18 genes. The most frequently altered gene is the bone morphogenetic protein receptor 2 (BMPR2). Further genes from the...
4.
Welch C, Aldred M, Balachandar S, Dooijes D, Eichstaedt C, Graf S, et al.
Genet Med
. 2023 Jul;
25(11):100925.
PMID: 37422716
Purpose: Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. Genetic testing is currently recommended for adults diagnosed with heritable, idiopathic, anorexigen-, hereditary hemorrhagic...
5.
Eichstaedt C, Sassmannshausen Z, Shaukat M, Cao D, Xanthouli P, Gall H, et al.
Respir Res
. 2022 Mar;
23(1):74.
PMID: 35346192
Background: A genetic predisposition can lead to the rare disease pulmonary arterial hypertension (PAH). Most mutations have been identified in the gene BMPR2 in heritable PAH. However, as of today...
6.
Xanthouli P, Theobald V, Benjamin N, Marra A, DAgostino A, Egenlauf B, et al.
Respir Res
. 2021 Nov;
22(1):288.
PMID: 34753505
Background: Iron deficiency affects up to 50% of patients with pulmonary arterial hypertension (PAH) but iron markers such as ferritin and serum iron are confounded by several non-disease related factors...
7.
Shaukat M, Ishaq T, Muhammad N, Naz S
Eur J Med Genet
. 2019 Sep;
63(3):103755.
PMID: 31521835
BBS7 and RIN2 variants cause Bardet Biedl syndrome and RIN2 syndrome respectively. We investigated a consanguineous family in which five individuals manifested different phenotypes. Whole-exome sequencing analyses of the individual...
8.
Gilani U, Shaukat M, Rasheed A, Shahid M, Tasneem F, Arshad M, et al.
J Med Virol
. 2018 Aug;
91(1):1-13.
PMID: 30133783
It is evidenced that 20% of all tumors in humans are caused by oncoviruses, including human papilloma viruses, Epstein-Barr virus, Kaposi sarcoma virus, human polyomaviruses, human T-lymphotrophic virus-1, and hepatitis...