Results 61 to 70 of about 379,319 (247)

Characterizing the salivary RNA landscape to identify potential diagnostic, prognostic, and follow‐up biomarkers for breast cancer

Molecular Oncology, EarlyView.
This study explores salivary RNA for breast cancer (BC) diagnosis, prognosis, and follow‐up. High‐throughput RNA sequencing identified distinct salivary RNA signatures, including novel transcripts, that differentiate BC from healthy controls, characterize histological and molecular subtypes, and indicate lymph node involvement.
Nicholas Rajan, Irina Primac, Emre Etlioglu, Laurens Debruyne, Ann Janssen, Magy Sallam, Kevin Tabury, Roel Quintens, Wiebren Tjalma, Mohammed Abderrafi Benotmane   +9 more
wiley   +1 more source

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling

Balkan Journal of Medical Genetics
X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. In this study, we report the case of a Moroccan patient diagnosed with X-ALD due to a mutation
Mansouri M, Smol T, Louhabe N, Rama M, Rada N, Fdil N, Bouskraoui M, Aboussair N   +7 more
doaj   +1 more source

Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology

Molecular Oncology, EarlyView.
Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts, Senada Koljenović, Elise Daems, Karolien De Wael, Marc Peeters, Léon C. van Kempen, Greetje Vanhoutte, Karen Zwaenepoel, Timon Vandamme   +8 more
wiley   +1 more source

Investigating the cell of origin and novel molecular targets in Merkel cell carcinoma: a historic misnomer

Molecular Oncology, EarlyView.
This study indicates that Merkel cell carcinoma (MCC) does not originate from Merkel cells, and identifies gene, protein & cellular expression of immune‐linked and neuroendocrine markers in primary and metastatic Merkel cell carcinoma (MCC) tumor samples, linked to Merkel cell polyomavirus (MCPyV) status, with enrichment of B‐cell and other immune cell
Richie Jeremian, Sriraam Sivachandran, Melissa Galati, Brandon Ramchatesingh, Hibo Rijal, Johnny Hanna, Elena Netchiporouk, May Chergui, Margaret Redpath, Samy Abou Setah, Ivan V. Litvinov   +10 more
wiley   +1 more source

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing

npj Genomic Medicine
Somatic mosaicism produces genetic differences between cells in an individual and is an underrecognized contributor to phenotypic variability. Precise understanding of the natural history of genetic diseases, therefore, requires detection and recognition
Alexandra C. Keefe, Dana M. Jensen, Meranda M. Pham, Natalie Y T Au, Erika Beckman, Monica Penon-Portmann, Emily Shelkowitz, Renee Bend, Michelle M. Morrow, Paul Kruszka, Divya Vats, Bianca E. Russell, Erica Chan, Derek Wong, Ahna Rabani, Lauren O’Grady, Inderneel Sahai, Kimberly Widmeyer, Ethan D. Sperry, Barbara E. Hallinan, Rebecca Tryon, Troy C. Lund, Florian S. Eichler, Angela Sun, James T. Bennett   +24 more
doaj   +1 more source

On the clinical picture and diagnosis of rare neurological diseases [PDF]

Саратовский научно-медицинский журнал, 2018
 The article presents clinical observation of patient H, 2007 year of birth., with X-linked adrenoleukodystrophy (X-ALD). This is a rare hereditary metabolic disease, not only in Russia but also worldwide.
Ulyanova O.V., Kutashov V.A., Brezhneva N.V.   +2 more
doaj  

Assisted reproductive technologies and legal aspects of sex selection

Андрология и генитальная хирургия, 2019
The paper covers the legal and ethical aspects of sex selection, and the dynamics of public opinion on this issue in different countries and regions of the world. Also, the results of two questionnaires, organized by Research Centre for Medical Genetics (
S. Sh. Khayat, L. F. Kurilo, V. B. Chernykh   +2 more
doaj   +1 more source

Integrated genomic and proteomic profiling reveals insights into chemoradiation resistance in cervical cancer

Molecular Oncology, EarlyView.
A comprehensive genomic and proteomic analysis of cervical cancer revealed STK11 and STX3 as a potential biomarkers of chemoradiation resistance. Our study demonstrated EGFR as a therapeutic target, paving the way for precision strategies to overcome treatment failure and the DNA repair pathway as a critical mechanism of resistance.
Janani Sambath, Irene A. George, Srikanth S. Manda, Prasanth Ariyannur, Ekta R. Dhawale, Raja Sekhar Kommu, Rajan Datar, Darshana Patil, Vinita Trivedi, Manisha Singh, Kumar Prabhash, Sewanti Limaye, Richa Chauhan, Prashant Kumar   +13 more
wiley   +1 more source

YAP1::TFE3 mediates endothelial‐to‐mesenchymal plasticity in epithelioid hemangioendothelioma

Molecular Oncology, EarlyView.
The YAP1::TFE3 fusion protein drives endothelial‐to‐mesenchymal transition (EndMT) plasticity, resulting in the loss of endothelial characteristics and gain of mesenchymal‐like properties, including resistance to anoikis, increased migratory capacity, and loss of contact growth inhibition in endothelial cells.
Ant Murphy, Samuel Hartzler, Paula A. Vargas Carranza, Shyaman Jayasundara, Madison E. Yates, Nimod D. Janson, Bozhi Liu, Annaleigh Benton, Majid Kazemian, Jason A. Hanna   +9 more
wiley   +1 more source

Reticulate Pigmentary Disorders: a review

Pigment International, 2019
Reticulate pigmentary disorders include presentations with “net-like,” “sieve-like,” or “chicken wire” configuration of the skin lesions. Various congenital and acquired dermatoses, as well as few systemic diseases, are present with this pattern of skin ...
Surabhi Sinha, Anita Kulhari
doaj   +1 more source