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Latest Publications and Research on McArdle Disease


PLoS Pathog.      

Stress keratin 17 enhances papillomavirus infection-induced disease by downregulating T cell recruitment.

Wang W, Uberoi A, Spurgeon M, Gronski E, Majerciak V, Lobanov A, Hayes M, Loke A, Zheng ZM, Lambert PF

High-risk human papillomaviruses (HPVs) cause 5% of human cancers. Despite the availability of HPV vaccines, there remains a strong urgency to find wa ... Read More

Source: PubMed
Proc. Natl. Acad. Sci. U.S.A.      

De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.

Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD, O'Connor TD

De novo mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic variat ... Read More

Source: PubMed
Conf Proc IEEE Eng Med Biol Soc      

Evaluation of daily walking activity and gait profiles: a novel application of a time series analysis framework.

Buckley C, McArdle R, Galna B, Thomas A, Rochester L, Del Din S

Wearable technology allows an in-depth analysis of gait behaviour in free-living environments. This investigation aimed to use Alzheimer's disease as ... Read More

Source: PubMed
J Transl Med      

Flow cytometry and targeted immune transcriptomics identify distinct profiles in patients with chronic myeloid leukemia receiving tyrosine kinase inhibitors with or without interferon-a.

Alves R, McArdle SEB, Vadakekolathu J, Gonçalves AC, Freitas-Tavares P, Pereira A, Almeida AM, Sarmento-Ribeiro AB, Rutella S

Tumor cells have evolved complex strategies to escape immune surveillance, a process which involves NK cells and T lymphocytes, and various immunologi ... Read More

Source: PubMed
Cancer   2019 Dec 23   

The emerging role of mediator complex subunit 12 in tumorigenesis and response to chemotherapeutics.

Zhang S, O'Regan R, Xu W

Transcriptional dysregulation induced by disease-defining genetic alterations of proteins in transcriptional machinery is a key feature of cancers. Me ... Read More

Source: PubMed
PLoS Pathog.      

Stress keratin 17 enhances papillomavirus infection-induced disease by downregulating T cell recruitment.

Wang W, Uberoi A, Spurgeon M, Gronski E, Majerciak V, Lobanov A, Hayes M, Loke A, Zheng ZM, Lambert PF

High-risk human papillomaviruses (HPVs) cause 5% of human cancers. Despite the availability of HPV vaccines, there remains a strong urgency to find wa ... Read More

Source: PubMed
Proc. Natl. Acad. Sci. U.S.A.      

De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.

Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD, O'Connor TD

De novo mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic variat ... Read More

Source: PubMed
Conf Proc IEEE Eng Med Biol Soc      

Evaluation of daily walking activity and gait profiles: a novel application of a time series analysis framework.

Buckley C, McArdle R, Galna B, Thomas A, Rochester L, Del Din S

Wearable technology allows an in-depth analysis of gait behaviour in free-living environments. This investigation aimed to use Alzheimer's disease as ... Read More

Source: PubMed
J Transl Med      

Flow cytometry and targeted immune transcriptomics identify distinct profiles in patients with chronic myeloid leukemia receiving tyrosine kinase inhibitors with or without interferon-a.

Alves R, McArdle SEB, Vadakekolathu J, Gonçalves AC, Freitas-Tavares P, Pereira A, Almeida AM, Sarmento-Ribeiro AB, Rutella S

Tumor cells have evolved complex strategies to escape immune surveillance, a process which involves NK cells and T lymphocytes, and various immunologi ... Read More

Source: PubMed
Cancer   2019 Dec 23   

The emerging role of mediator complex subunit 12 in tumorigenesis and response to chemotherapeutics.

Zhang S, O'Regan R, Xu W

Transcriptional dysregulation induced by disease-defining genetic alterations of proteins in transcriptional machinery is a key feature of cancers. Me ... Read More

Source: PubMed
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