Výsledky vyhledávání - "Michael S. Nahorski"

Akademický článek

Advancing Evidence Generation for Circulating Tumor DNA: Lessons Learned from A Multi-Assay Study of Baseline Circulating Tumor DNA Levels across Cancer Types and Stages

Publikováno v: Diagnostics, Vol 14, Iss 9, p 912 (2024)

Circulating tumor DNA (ctDNA) holds promise as a biomarker for predicting clinical responses to therapy in solid tumors, and multiple ctDNA assays are in development. However, the heterogeneity in ctDNA levels prior to treatment (baseline) across dif

Externí odkaz: https://doaj.org/article/6100185e977649be90845d41c4acd4d9

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Data from Therapeutic Targeting the Loss of the Birt-Hogg-Dubé Suppressor Gene

Autor: Eamonn R. Maher, Farida Latif, Zsuzsanna Nagy, Laurence Seabra, Anne Reiman, Erzsebet Rabai, Michael S. Nahorski, Janine Fenton, Wenbin Wei, Xiaohong Lu

Brit-Hogg-Dubé (BHD) syndrome, an autosomal dominant familial cancer, is associated with increased risk of kidney cancer. BHD syndrome is caused by loss-of-function mutations in the folliculin (FLCN) protein. To develop therapeutic approaches for re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7d65a718810eec0cb86c25e7e910ac83
https://doi.org/10.1158/1535-7163.c.6535368

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Mutations in phospholipase C eta-1 ( PLCH1 ) are associated with holoprosencephaly

Autor: Kalthoum Tlili-Graiess, Hayley J. Sharpe, Susan Lindsay, Emily V. Fletcher, Geoff Woods, Amal Alhashem, Katherine Schon, Ranad Shaheen, Michael S. Nahorski, Ichrak Drissi, Sarah F. Smithson, Fowzan S. Alkuraya, Steve Lisgo, Alberto Fernández-Jaén

Funder: NIHR Cambridge Biomedical Research centre
Background: Holoprosencephaly is a spectrum of developmental disorder of the embryonic forebrain in which there is failed or incomplete separation of the prosencephalon into two cerebral hemisphe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4f3ebfedaf94b9e49a20e3f6d314a4a
https://www.repository.cam.ac.uk/handle/1810/326540

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Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel K(v)6.4 Subunit

Autor: David K. Menon, Van B. Lu, Frank Reimann, Christopher A. Brown, Daniel W. Wheeler, Michael C. Lee, Gerard Callejo, James R.F. Hockley, C. Geoffrey Woods, Emily V. Fletcher, Michael S. Nahorski, Luke A. Pattison, Ichrak Drissi, Patrik Ernfors, Kaitlin Stouffer, Gillian Ison, Ewan St. John Smith

Publikováno v: CELL REPORTS
Cell Reports

Summary By studying healthy women who do not request analgesia during their first delivery, we investigate genetic effects on labor pain. Such women have normal sensory and psychometric test results, except for significantly higher cuff pressure pain

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c065c50f304e81604ab566092d75803a
http://livrepository.liverpool.ac.uk/3090310/1/Cell_Reports_2020.pdf

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Human labour pain is influenced by the voltage-gated potassium channel KV6.4 subunit

Autor: Michael C. Lee, Michael S. Nahorski, James R.F. Hockley, Van B. Lu, Gillian Ison, Luke A. Pattison, Gerard Callejo, Kaitlin Stouffer, Emily Fletcher, Christopher Brown, Ichrak Drissi, Daniel Wheeler, Patrik Ernfors, David Menon, Frank Reimann, Ewan St John Smith, C. Geoffrey Woods

We sought genetic effects on labour pain by studying healthy women who did not request analgesia during their first delivery. Extensive sensory and psychometric testing were normal in these women, except for significantly higher cuff-pressure pain. W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8cccd3031016ced653cb344dd0e3ed0
https://doi.org/10.1101/489310

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PEHO syndrome: the endpoint of different genetic epilepsies

Autor: Mohnish Suri, Hamish Houston, Alasdair Parker, C. Geoffrey Woods, Sameer M. Zuberi, Manali Chitre, Michael S. Nahorski, Angela F. Brady, Kaitlin Stouffer, Bryony Dunning-Davies, Emma Wakeling

BackgroundProgressive encephalopathy, hypsarrhythmia and optic atrophy (PEHO) has been described as a clinically distinct syndrome. It has been postulated that it is an autosomal recessive condition. However, the aetiology is poorly understood, and t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f3ae89e4413b510b12edbfab7c7319
https://www.repository.cam.ac.uk/handle/1810/285865

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Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12

Autor: Geoff Woods, N. Sarveswaran, S. M. Srinivas, V. K. Gowda, F. Browne, Michael S. Nahorski, Celia Moss

Publikováno v: The British journal of dermatology. 179(5)

Background Midface toddler excoriation syndrome (MiTES) is a condition recently reported in three unrelated children. Habitual scratching from the first year of life inflicted deep, chronic, scarring wounds around the nose and eyes. One child had a m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba87497738d9613d16455182d37e464e
https://pubmed.ncbi.nlm.nih.gov/30387519

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