The Iraqi Journal of Medical Sciences, 2021 Background: Chronic lymphocytic leukemia (CLL) is a malignancy of mature B cells. The genetic factors have been found to play a role in the pathogenesis of the disease.
Hiba H. Hashim, Subeh S. Abdulateef
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Biomedicines, 2023 Data on genetic and immunophenotypical characteristics of uterine mesonephric-like adenocarcinoma (MLA) remain limited. Therefore, we aimed to investigate the clinicopathological, immunohistochemical, and molecular features of uterine MLA.
Hyun-Hee Koh +2 more
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Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs [PDF]
, 2018 Four full-sibling intact male Miniature Poodles were evaluated at 4–19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated
A Aartsma-Rus +63 more
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Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population. [PDF]
PLoS Genetics, 2013 We demonstrated previously that 75% of infertile men with round, acrosomeless spermatozoa (globozoospermia) had a homozygous 200-Kb deletion removing the totality of DPY19L2.
Charles Coutton +9 more
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DMC1 stabilizes crossovers at high and low temperatures during wheat meiosis
Frontiers in Plant Science, 2023 Effective chromosome synapsis and crossover formation during meiosis are essential for fertility, especially in grain crops such as wheat. These processes function most efficiently in wheat at temperatures between 17-23 °C, although the genetic ...
Tracie N. Draeger +5 more
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Chromothripsis Is a Recurrent Genomic Abnormality in High-Risk Myelodysplastic Syndromes. [PDF]
PLoS ONE, 2016 To explore novel genetic abnormalities occurring in myelodysplastic syndromes (MDS) through an integrative study combining array-based comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) in a series of MDS and MDS ...
María Abáigar +18 more
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Autophagy gene haploinsufficiency drives chromosome instability, increases migration, and promotes early ovarian tumors. [PDF]
, 2020 Autophagy, particularly with BECN1, has paradoxically been highlighted as tumor promoting in Ras-driven cancers, but potentially tumor suppressing in breast and ovarian cancers.
Axelrod, Joshua +14 more
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Delineating the cytogenomic and epigenomic landscapes of glioma stem cell lines. [PDF]
PLoS ONE, 2013 Glioblastoma multiforme (GBM), the most common and malignant type of glioma, is characterized by a poor prognosis and the lack of an effective treatment, which are due to a small sub-population of cells with stem-like properties, termed glioma stem cells
Simona Baronchelli +13 more
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CRISPR reveals a distal super-enhancer required for Sox2 expression in mouse embryonic stem cells. [PDF]
PLoS ONE, 2014 The pluripotency of embryonic stem cells (ESCs) is maintained by a small group of master transcription factors including Oct4, Sox2 and Nanog. These core factors form a regulatory circuit controlling the transcription of a number of pluripotency factors ...
Yan Li +7 more
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Deletion of chromosome 13 in Moebius syndrome. [PDF]
Journal of Medical Genetics, 1991 A girl aged 2 1/2 years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13)(q12.2]. This is the second report concerning involvement of chromosome 13q and Moebius syndrome. The observation raises the possibility that a gene responsible for Moebius syndrome is located in this region of chromosome 13.
J J, Slee, R D, Smart, D L, Viljoen
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