Results 81 to 90 of about 1,221,619 (355)

Cell‐free DNA aneuploidy score as a dynamic early response marker in prostate cancer

Molecular Oncology, EarlyView.
mFast‐SeqS‐based genome‐wide aneuploidy scores are concordant with aneuploidy scores obtained by whole genome sequencing from tumor tissue and can predict response to ARSI treatment at baseline and, at an early time point, to ARSI and taxanes. This assay can be easily performed at low cost and requires little input of cfDNA. Cell‐free circulating tumor
Khrystany T. Isebia, Anouk C. de Jong, Lisanne F. van Dessel, Vanja de Weerd, Corine Beaufort, Jean Helmijr, José Alberto Nakauma‐González, Job van Riet, Paul Hamberg, Daniel Vis, Michiel S. van der Heijden, Nick Beije, Martijn P. Lolkema, Teoman Deger, Saskia M. Wilting, Ronald de Wit, Maurice P. H. M. Jansen, John W. M. Martens   +17 more
wiley   +1 more source

Exploration of strengthening the cultivation of ethical quality in the construction of medical genetics course [PDF]

Jichu yixue yu linchuang, 2020
With the completion of the human genome project and the advancement of sequencing technology, the ethical issues involved in medical genetics have become increasingly prominent. This requires the integration of ethical and other ideological elements into
MI Ya-jing, ZHANG Ni, FENG Hao, LIU Jie, GOU Xing-chun, JING Xiao-hong
doaj  

Interview of Judith Westman by Linda Stone [PDF]

, 2017
Interview conducted at the Medical Heritage Center, Columbus, Ohio.In her oral history interview, Judith Westman discusses her time as a medical student and professional at the Ohio State University after her obtaining her undergraduate degree at Ohio ...
Westman, Judith A.
core  

A Rare Disease Patient Manager [PDF]

, 2012
publicado: 6th International Conference on Practical Applications of Computational Biology & Bioinformatics (PACBB. Salamanca, 28-30 Março 2012The personal health implications behind rare diseases are seldom considered in widespread medical care.
A. Schieppati, C. Béroud, E. Seoane-Vazquez, G.P. Patrinos, H. Nabarette, I.F.A.C. Fokkema, J.L. Oliveira, M. Claustres, M. Krawczak, M. Via, M.R. Kohonen-Corish, P. Riikonen, S. Schneeweiss, W. Burke   +13 more
core   +1 more source

MET variants with activating N‐lobe mutations identified in hereditary papillary renal cell carcinomas still require ligand stimulation

Molecular Oncology, EarlyView.
MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin, Audrey Vinchent, Marie Fernandes, Isabelle Damour, Agathe Laratte, Rémi Tellier, Gabriella O. Estevam, Jean‐Pascal Meneboo, Céline Villenet, Clotilde Descarpentries, James S. Fraser, Martin Figeac, Alexis B. Cortot, Etienne Rouleau, David Tulasne   +14 more
wiley   +1 more source

Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1

Frontiers in Immunology
Children with severe inflammatory diseases are challenging to diagnose and treat, and the etiology of disease often remains unexplained. Here we present DIAPH1 deficiency as an unexpected genetic finding in a child with fatal inflammatory bowel disease ...
Sagar Bhattad, Somashekara H. Ramakrishna, Ratan Kumar, Joseph M. Choi, Janet G. Markle, Janet G. Markle, Janet G. Markle   +6 more
doaj   +1 more source

Response to neoadjuvant chemotherapy in early breast cancers is associated with epithelial–mesenchymal transition and tumor‐infiltrating lymphocytes

Molecular Oncology, EarlyView.
Epithelial–mesenchymal transition (EMT) and tumor‐infiltrating lymphocytes (TILs) are associated with early breast cancer response to neoadjuvant chemotherapy (NAC). This study evaluated EMT and TIL shifts, with immunofluorescence and RNA sequencing, at diagnosis and in residual tumors as potential biomarkers associated with treatment response.
Françoise Derouane, Jérôme Ambroise, Cédric van Marcke, Mieke Van Bockstal, Martine Berlière, Christine Galant, Hélène Dano, Médina Lougué, Elena Benidovskaya, Guy Jerusalem, Vincent Bours, Claire Josse, Jérôme Thiry, Aurélie Daumerie, Caroline Bouzin, Cyril Corbet, François P. Duhoux   +16 more
wiley   +1 more source

Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes

The Application of Clinical Genetics
Ali M Sawlan,1 Msaed Alotaibi,1 Rayan M Alharbi,1 Nimr A Alwahbi,1 Manar Alshammary,2 Ali Mohammad Alasmari,2 Fuad Al Mutairi3,4 1College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG ...
Sawlan AM, Alotaibi M, Alharbi RM, Alwahbi NA, Alshammary M, Alasmari AM, Al Mutairi F   +6 more
doaj  

Smith–Lemli–Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development

Biomedicines
Background/Objectives: Smith–Lemli–Opitz syndrome is a metabolic autosomal recessive disease, characterized by congenital defects, with concomitant psychomotor developmental delay. The symptoms are variable and depend on the clinical form of the disease.
Dorota Olczak-Kowalczyk, Aneta Witt-Porczyk, Paula Piekoszewska-Ziętek, Małgorzata Krajewska-Walasek   +3 more
doaj   +1 more source

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability [version 1; referees: 2 approved]

F1000Research, 2017
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss.
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen   +18 more
doaj   +1 more source