Houman Ashrafian
Overview
Explore the profile of Houman Ashrafian including associated specialties, affiliations and a list of published articles.
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80
Citations
2921
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Recent Articles
1.
Symonds J, Park K, Mignot C, MacLeod S, Armstrong M, Ashrafian H, et al.
Epilepsia
. 2024 Sep;
65(11):3303-3323.
PMID: 39348199
Objective: POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non-coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited...
2.
Pal N, Acharjee A, Ament Z, Dent T, Yavari A, Mahmod M, et al.
FASEB J
. 2024 Mar;
38(6):e23505.
PMID: 38507255
Aortic stenosis (AS) and hypertrophic cardiomyopathy (HCM) are distinct disorders leading to left ventricular hypertrophy (LVH), but whether cardiac metabolism substantially differs between these in humans remains to be elucidated....
3.
Elliott K, Haber M, Daggag H, Busby G, Sarwar R, Kennet D, et al.
Mol Biol Evol
. 2022 Feb;
39(3).
PMID: 35192718
The indigenous population of the United Arab Emirates (UAE) has a unique demographic and cultural history. Its tradition of endogamy and consanguinity is expected to produce genetic homogeneity and partitioning...
4.
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants
Symonds J, Elliott K, Shetty J, Armstrong M, Brunklaus A, Cutcutache I, et al.
Brain
. 2021 Oct;
144(9):2879-2891.
PMID: 34687210
Epilepsies of early childhood are frequently resistant to therapy and often associated with cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene-based therapies, may prevent seizures and comorbidities. Epidemiological...
5.
Hadjadj J, Castro C, Tusseau M, Stolzenberg M, Mazerolles F, Aladjidi N, et al.
Nat Commun
. 2020 Oct;
11(1):5341.
PMID: 33087723
Autoimmunity can occur when a checkpoint of self-tolerance fails. The study of familial autoimmune diseases can reveal pathophysiological mechanisms involved in more common autoimmune diseases. Here, by whole-exome/genome sequencing we...
6.
Parks T, Elliott K, Lamagni T, Auckland K, Mentzer A, Guy R, et al.
Genes Immun
. 2019 Aug;
21(1):63-70.
PMID: 31462703
Invasive group A streptococcal (GAS) disease is uncommon but carries a high case-fatality rate relative to other infectious diseases. Given the ubiquity of mild GAS infections, it remains unclear why...
7.
Mahmod M, Chan K, Raman B, Westaby J, Dass S, Petrou M, et al.
JACC Cardiovasc Imaging
. 2019 Aug;
12(11 Pt 1):2276-2278.
PMID: 31422125
No abstract available.
8.
Mahmod M, Pal N, Rayner J, Holloway C, Raman B, Dass S, et al.
J Cardiovasc Magn Reson
. 2018 Dec;
20(1):88.
PMID: 30580760
Background: Heart failure (HF) is characterized by altered myocardial substrate metabolism which can lead to myocardial triglyceride accumulation (steatosis) and lipotoxicity. However its role in mild HF with preserved ejection...
9.
Contractor H, Lie R, Cunnington C, Li J, Stottrup N, Manlhiot C, et al.
JACC Basic Transl Sci
. 2018 Sep;
1(6):461-471.
PMID: 30167533
Remote ischemic pre-conditioning (rIPC) has emerged as a potential mechanism to reduce ischemia-reperfusion injury. Clinical data, however, have been mixed, and its physiological basis remains unclear, although it appears to...
10.
Ehsan M, Kelly M, Hooper C, Yavari A, Beglov J, Bellahcene M, et al.
J Mol Cell Cardiol
. 2018 Jul;
121:287-296.
PMID: 30048712
Cysteine and glycine rich protein 3 (CSRP3) encodes Muscle LIM Protein (MLP), a well-established disease gene for Hypertrophic Cardiomyopathy (HCM). MLP, in contrast to the proteins encoded by the other...