Peter J Houweling
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Explore the profile of Peter J Houweling including associated specialties, affiliations and a list of published articles.
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Articles
42
Citations
1062
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Recent Articles
1.
Crossman V, Tiong C, Coles C, Bozaoglu K, Forbes R, Yiu E, et al.
Stem Cell Res
. 2025 Feb;
84:103673.
PMID: 39954549
To produce an in vitro model of Bethlem myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous COL6A1 c.1056 + 2T > A mutation...
2.
Houweling P, Crossman V, Tiong C, Coles C, Taylor R, Clayton J, et al.
Stem Cell Res
. 2024 Jan;
75:103313.
PMID: 38277710
We used gene editing to introduce DNA sequences encoding the tdTomato fluorescent protein into the α -skeletal actin 1 (ACTA1) locus to develop an ACTA1-tdTomato induced pluripotent stem cell reporter...
3.
Woodcock I, Tachas G, Desem N, Houweling P, Kean M, Emmanuel J, et al.
PLoS One
. 2024 Jan;
19(1):e0294847.
PMID: 38271438
Background: ATL1102 is a 2'MOE gapmer antisense oligonucleotide to the CD49d alpha subunit of VLA-4, inhibiting expression of CD49d on lymphocytes, reducing survival, activation and migration to sites of inflammation....
4.
Haug M, Reischl B, Nubler S, Kiriaev L, Mazala D, Houweling P, et al.
Skelet Muscle
. 2022 Jun;
12(1):14.
PMID: 35733150
Background: A common polymorphism (R577X) in the ACTN3 gene results in the complete absence of the Z-disc protein α-actinin-3 from fast-twitch muscle fibres in ~ 16% of the world's population....
5.
Suleski I, Smith R, Vo C, Scriba C, Saker S, Larmonier T, et al.
Stem Cell Res
. 2022 Jun;
63:102830.
PMID: 35728440
Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei...
6.
Clayton J, Suleski I, Vo C, Smith R, Scriba C, Saker S, et al.
Stem Cell Res
. 2022 Jun;
63:102829.
PMID: 35728439
Variants in the ACTA1 gene are a common cause of nemaline myopathy (NM); a muscle disease that typically presents at birth or early childhood with hypotonia and muscle weakness. Here,...
7.
Wyckelsma V, Venckunas T, Houweling P, Schlittler M, Lauschke V, Tiong C, et al.
Am J Hum Genet
. 2022 May;
109(5):973.
PMID: 35523148
No abstract available.
8.
Coles C, Woodcock I, Pellicci D, Houweling P
Biomedicines
. 2022 Mar;
10(3).
PMID: 35327337
The lack of dystrophin in Duchenne muscular dystrophy (DMD) results in membrane fragility resulting in contraction-induced muscle damage and subsequent inflammation. The impact of inflammation is profound, resulting in fibrosis...
9.
Lifespan Analysis of Dystrophic Fast-Twitch Muscle Morphology and Its Impact on Contractile Function
Kiriaev L, Kueh S, Morley J, North K, Houweling P, Head S
Front Physiol
. 2021 Dec;
12:771499.
PMID: 34950049
Duchenne muscular dystrophy is caused by the absence of the protein dystrophin from skeletal muscle and is characterized by progressive cycles of necrosis/regeneration. Using the dystrophin deficient mouse model, we...
10.
Kiriaev L, Houweling P, North K, Head S
Hum Mol Genet
. 2021 Nov;
31(9):1417-1429.
PMID: 34761268
The common null polymorphism (R577X) in the ACTN3 gene is present in over 1.5 billion people worldwide and results in the absence of the protein α-actinin-3 from the Z-discs of...