Results 61 to 70 of about 3,060,741 (318)

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer

Molecular Oncology, EarlyView.
We used whole exome and RNA‐sequencing to profile divergent genomic and transcriptomic landscapes of microsatellite stable (MSS) and microsatellite instable (MSI) colorectal cancer. Alterations were classified using a computational score for integrative cancer variant annotation and prioritization.
Efstathios‐Iason Vlachavas, Konstantinos Voutetakis, Vivian Kosmidou, Spyridon Tsikalakis, Spyridon Roditis, Konstantinos Pateas, Ryangguk Kim, Kymberleigh Pagel, Stephan Wolf, Gregor Warsow, Antonia Dimitrakopoulou‐Strauss, Georgios N. Zografos, Alexander Pintzas, Johannes Betge, Olga Papadodima, Stefan Wiemann   +15 more
wiley   +1 more source

Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome

Nature Communications
Individuals with Down syndrome, the genetic condition caused by trisomy 21, exhibit strong inter-individual variability in terms of developmental phenotypes and diagnosis of co-occurring conditions.
Micah G. Donovan, Neetha P. Eduthan, Keith P. Smith, Eleanor C. Britton, Hannah R. Lyford, Paula Araya, Ross E. Granrath, Katherine A. Waugh, Belinda Enriquez Estrada, Angela L. Rachubinski, Kelly D. Sullivan, Matthew D. Galbraith, Joaquin M. Espinosa   +12 more
doaj   +1 more source

Sudden Caffeine Withdrawal Triggers Migraine—A Randomized Controlled Trial

Frontiers in Neurology, 2020
Objective: Assessing the effects of caffeine withdrawal on migraine.Background: The effects of caffeine withdrawal on migraineurs are at large unknown.Methods: This was a randomized, double-blind, crossover study (NCT03022838), designed to enroll 80 ...
Karl B. Alstadhaug, Karl B. Alstadhaug, Hilde Karen Ofte, Kai Ivar Müller, Kai Ivar Müller, Anna P. Andreou, Anna P. Andreou   +6 more
doaj   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

Germline variants in CDKN2A wild‐type melanoma prone families

Molecular Oncology, EarlyView.
Among melanoma‐prone families, wild‐type for CDKN2A and CDK4, some have pathogenic variants in genes not usually linked to melanoma. Furthermore, rare XP‐related variants and variants in MC1R are enriched in such families. Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic
Gjertrud T. Iversen, Marie Loeng, Amalie Lund Holth, Per E. Lønning, Jürgen Geisler, Stian Knappskog   +5 more
wiley   +1 more source

Reed's syndrome

Indian Journal of Dermatology, 2018
Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene.
Almeida, FT, Santos, R P, Carvalho, SD, Brito, C   +3 more
openaire   +5 more sources

Overlap syndrome: A real syndrome? [PDF]

Clinical Liver Disease, 2014
Autoimmune liver diseases are rare and chronic and exert a significant burden on quality and quantity of life. The failure to understand the true etiopathogenesis of disease leaves clinicians diagnosing patients based on collective positive and negative clinical findings, such that three particular autoimmune diseases are apparent (Table 1).
Gideon M. Hirschfield, Debashis Haldar
openaire   +3 more sources

Ubiquitination of transcription factors in cancer: unveiling therapeutic potential

Molecular Oncology, EarlyView.
In cancer, dysregulated ubiquitination of transcription factors contributes to the uncontrolled growth and survival characteristics of tumors. Tumor suppressors are degraded by aberrant ubiquitination, or oncogenic transcription factors gain stability through ubiquitination, thereby promoting tumorigenesis.
Dongha Kim, Hye Jin Nam, Sung Hee Baek
wiley   +1 more source

The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey

Orphanet Journal of Rare Diseases
Background Angelman syndrome (AS) is a rare neurogenetic disorder characterized by persistent cognitive and functional impairments that necessitate lifelong care.
John Jarvis, Elizabeth Chertavian, Marric Buessing, Taylor Renteria, Lufei Tu, Lauren Hoffer, Ryan Fischer, Amanda Moore, Meagan Cross, Megan Tones   +9 more
doaj   +1 more source

Strabismic syndromes and syndromic strabismus - a brief review [PDF]

arXiv, 2015
Strabismus can be found in association with congenital heart diseases, for examples, in velocardiofacial (DiGeorge) syndrome, Down syndrome, mild dysmorphic features, in CHARGE association, Turner syndrome, Ullrich-Turner syndrome, cardiofaciocutaneous syndrome.1-4 Some types of strabismus is heritable (e.g.
arxiv