Results 51 to 60 of about 115,857 (367)

Tonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

open access: yesMolecular Oncology, EarlyView.
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez   +17 more
wiley   +1 more source

Inactivation of RB1, CDKN2A, and TP53 have distinct effects on genomic stability at side‐by‐side comparison in karyotypically normal cells

open access: yesGenes, Chromosomes and Cancer, Volume 62, Issue 2, Page 93-100, February 2023., 2023
Abstract Chromosomal instability is a common feature in malignant tumors. Previous studies have indicated that inactivation of the classical tumor suppressor genes RB1, CDKN2A, and TP53 may contribute to chromosomal aberrations in cancer by disrupting different aspects of the cell cycle and DNA damage checkpoint machinery.
Natalie Andersson   +6 more
wiley   +1 more source

Chromosomal abnormalities in 163 Tunisian couples with recurrent miscarriages

open access: yesThe Pan African Medical Journal, 2017
Recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses before 24 weeks of gestation. Parental chromosomal abnormalities represent an important etiology of RM.
Wiem Ayed   +8 more
doaj   +1 more source

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi   +7 more
wiley   +1 more source

A cryptic EWSR1::DDIT3 fusion in myxoid liposarcoma: Potential pitfalls with FISH and cytogenetics

open access: yesGenes, Chromosomes and Cancer, Volume 62, Issue 3, Page 167-170, March 2023., 2023
Abstract Myxoid liposarcoma (MLS) is molecularly characterized by fusions involving the DDIT3 gene in chromosome band 12q13; the fusion partner is FUS in band 16p11 in 90–95% of the cases and EWSR1 in band 22q12 in the remaining 5–10%. Hence, molecular studies, often fluorescence in situ hybridization (FISH) for DDIT3 rearrangement, are useful for ...
Sebastian Ibstedt   +3 more
wiley   +1 more source

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

open access: yesMolecular Cytogenetics, 2023
Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas.
Angelos Alexandrou   +10 more
doaj   +1 more source

Molecular cytogenetic differentiation of paralogs of Hox paralogs in duplicated and re-diploidized genome of the North American paddlefish (Polyodon spathula). [PDF]

open access: yes, 2017
BackgroundAcipenseriformes is a basal lineage of ray-finned fishes and comprise 27 extant species of sturgeons and paddlefishes. They are characterized by several specific genomic features as broad ploidy variation, high chromosome numbers, presence of ...
Amemiya, Chris T   +7 more
core   +4 more sources

NF2 is Essential for Human Endoderm Development

open access: yesAdvanced Science, EarlyView.
This study demonstrates that NF2, moesin‐ezrin‐radixin like (MERLIN) tumor suppressor (NF2) is essential for human endoderm formation. NF2 knockout human induced pluripotent stem cells fail to form endoderm both in vitro and in vivo due to yes‐associated protein 1 (YAP1) nuclear translocation, redirecting differentiation toward myofibroblast‐like cells.
Minjin Jeong   +5 more
wiley   +1 more source

Candidate genes for infertility: an in-silico study based on cytogenetic analysis

open access: yesBMC Medical Genomics, 2022
Background The cause of infertility remains unclear in a significant proportion of reproductive-age couples who fail to conceive naturally. Chromosomal aberrations have been identified as one of the main genetic causes of male and female infertility ...
Jatinder Singh Sahota   +3 more
doaj   +1 more source

Genetic analysis of products of conception. Should we abandon classic karyotyping methodology?

open access: yesEinstein (São Paulo), 2021
Objective: To compare the results obtained by the classic and molecular methodology in the analysis of products of conception, the advantages and disadvantages of each method.
Denise Maria Christofolini   +5 more
doaj   +2 more sources

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