Subjects -> BIOLOGY (Total: 3174 journals)
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CYTOLOGY AND HISTOLOGY (32 journals)

Showing 1 - 29 of 29 Journals sorted alphabetically
Acta Histochemica     Hybrid Journal   (Followers: 3)
Annals of Cytology and Pathology     Open Access   (Followers: 1)
Applied Immunohistochemistry & Molecular Morphology     Hybrid Journal   (Followers: 16)
Cell Discovery     Open Access   (Followers: 2)
Comparative Cytogenetics     Open Access   (Followers: 1)
Current Protocols in Cytometry     Hybrid Journal  
Cytogenetic and Genome Research     Full-text available via subscription   (Followers: 2)
Cytokine     Hybrid Journal   (Followers: 6)
Cytokine & Growth Factor Reviews     Hybrid Journal   (Followers: 3)
Cytokine : X     Open Access  
Cytology and Genetics     Hybrid Journal   (Followers: 4)
Cytometry Part A     Hybrid Journal   (Followers: 3)
Cytometry Part B: Clinical Cytometry     Hybrid Journal   (Followers: 4)
Cytopathology     Hybrid Journal   (Followers: 11)
Cytoskeleton     Hybrid Journal   (Followers: 1)
Cytotechnology     Hybrid Journal   (Followers: 10)
Diagnostic Cytopathology     Hybrid Journal   (Followers: 10)
Egyptian Journal of Genetics And Cytology     Open Access  
European Journal of Histochemistry     Open Access   (Followers: 4)
Folia Cryptogamica Estonica     Open Access  
Histochemistry and Cell Biology     Hybrid Journal   (Followers: 6)
Journal of Cytology & Histology     Open Access   (Followers: 5)
Journal of Histochemistry and Cytochemistry     Hybrid Journal   (Followers: 7)
Journal of Histotechnology     Hybrid Journal   (Followers: 2)
Journal of Molecular Histology     Hybrid Journal   (Followers: 5)
Journal of the American Society of Cytopathology     Hybrid Journal   (Followers: 6)
Journal of the History of Biology     Hybrid Journal   (Followers: 5)
Single Cell Biology     Open Access  
Vegetation History and Archaeobotany     Hybrid Journal   (Followers: 4)
Similar Journals
Journal Cover
Cytogenetic and Genome Research
Journal Prestige (SJR): 0.748
Citation Impact (citeScore): 2
Number of Followers: 2  
 
  Full-text available via subscription Subscription journal
ISSN (Print) 1424-8581 - ISSN (Online) 1424-859X
Published by Karger Homepage  [122 journals]
  • Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar
           Clinical Features with the Exception of Profound Deafness

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      Abstract: Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heterogeneous clinical features depending on the size of the deletion. Here, we describe 2 patients with overlapping de novo 2q24.2q24.3 deletions, characterized by array-CGH. This is the smallest 2q24.2q24.3 region of overlap described in the literature encompassing only 9 genes (SLC4A10, DPP4, GCG, FAP, IFIH1, GCA, KCNH7, FIGN, GRB14). We focused our attention on SLC4A10, DPP4, and KCNH7, genes associated with neurological features. Our patients presented similar features: intellectual disability, developmental and language delay, hypotonia, joint laxity, and dysmorphic features. Only patient 2 showed profound deafness and also carried a heterozygous mutation of the GJB2 gene responsible for autosomal recessive deafness 1A (DFNB1A: OMIM 220290). Could the disruption of a gene present in the 2q24.2q24.3 deleted region be responsible for her profound hearing loss'
      Cytogenet Genome Res
      PubDate: Wed, 27 Jul 2022 10:51:29 +020
       
  • Genomic Features of Interstitial Deletions of Chromosome 9q in Acute
           Myeloid Leukemia

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      Abstract: Interstitial deletion in the long arm of chromosome 9 [del(9q)] is a fairly common cytogenetic finding associated with acute myeloid leukemia (AML), seen in approximately 2–5% of AML patients. However, the genomic features of the deletion remain largely unknown. Using chromosome analysis, single nucleotide polymorphism microarray, and next-generation sequencing, we characterized del(9q)s and other genomic alterations in 9 AML patients. We found several distinct features of the del(9q)s. The proximal breakpoints of the deletions are clustered within a 2.5-Mb region (chr9: 68,513,625–70,984,372; GRCh37) enriched with segmental duplications, which may represent a “hotspot” for genomic rearrangements. However, the distal breakpoints of the deletions vary significantly. In addition, the overall deleted region could be divided into a 14.4-Mb proximal constitutional region (chr9: 70,950,015–85,397,699; 9q21.11q21.32) and a 24.0-Mb distal oncogenic region (chr9: 85,397,700–109,427,261; 9q21.32q31.1). We further identified a 6.8-Mb common overlapped deletion region (CODR) in the distal region (chr9: 90,590,650–97,366,400). This CODR carries multiple genes that are reportedly involved in cancer pathogenesis. The prognostic value of the del(9q) in AML apparently depends on additional genomic alterations in the patients.
      Cytogenet Genome Res
      PubDate: Wed, 08 Jun 2022 13:46:09 +020
       
  • Cohesin RAD21 Gene Promoter Methylation Correlated with Better Prognosis
           in Breast Cancer Patients

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      Abstract: RAD21 plays multiple roles in numerous cancers. In breast cancer (BC), a high level of RAD21 correlates with poor disease outcomes and resistance to chemotherapy. However, data regarding RAD21 promoter methylation in BC tissue and its correlation with clinical outcomes in patients with BC remain limited. Here, we investigated the clinicopathological features associated with the methylation status of RAD21 in BC to figure out its possible role in pathogenesis and the formation of breast carcinogenesis. The methylation status of the RAD21 gene was significantly associated with better clinical outcomes in patients with BC.
      Cytogenet Genome Res
      PubDate: Thu, 02 Jun 2022 09:29:04 +020
       
  • Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in
           Women with Pregnancy Loss

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      Abstract: Skewed X-chromosome inactivation (sXCI) can be a marker of lethal genetic variants on the X chromosome in a woman since sXCI modifies the pathological phenotype. The aim of this study was to search for CNVs in women with miscarriages and sXCI. XCI was assayed using the classical method based on the amplification of highly polymorphic exon 1 of the androgen receptor (AR) gene. The XCI status was analysed in 313 women with pregnancy loss and in 87 spontaneously aborted embryos with 46,XX karyotype, as well as in control groups of 135 women without pregnancy loss and 64 embryos with 46,XX karyotype from induced abortions in women who terminated a normal pregnancy. The frequency of sXCI differed significantly between women with miscarriages and women without pregnancy losses (6.3% and 2.2%, respectively; p = 0.019). To exclude primary causes of sXCI, sequencing of the XIST and XACT genes was performed. The XIST and XACT gene sequencing revealed no known pathogenic variants that could lead to sXCI. Molecular karyotyping was performed using aCGH, followed by verification of X-linked CNVs by RT-PCR and MLPA. Microdeletions at Xp11.23 and Xq24 as well as gains of Xq28 were detected in women with sXCI and pregnancy loss.
      Cytogenet Genome Res
      PubDate: Mon, 30 May 2022 11:10:04 +020
       
  • Pseudodicentric Chromosome Originating from an X-Autosome Translocation in
           a Male Patient with Cryptozoospermia

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      Abstract: Genetic factors are responsible for 15% of male infertility conditions. Numerical and structural chromosomal anomalies are validated genetic factors leading to spermatogenic quantitative defects, with a frequency depending on the severity of the phenotype. Among the structural chromosomal rearrangements, dicentric chromosomes are generally observed in robertsonian translocations or in cases of Y chromosome isodicentrics. In X-autosome translocations, male carriers are generally infertile, regardless of the position of the breakpoint, due to interrupted spermatogenesis. We report an infertile man bearing an unusual balanced (X;22) translocation, with a centromeric X breakpoint generating a derivative pseudodicentric chromosome psu dic(22;X). Extensive cytogenetic analyses were necessary to determine the precise nature of the derivative chromosome. The likely cause of the reproductive phenotype of the patient is discussed based on meiotic chromosomal conformation.
      Cytogenet Genome Res
      PubDate: Tue, 24 May 2022 14:02:35 +020
       
  • Germline-Restricted Chromosomes and Autosomal Variants Revealed by
           Pachytene Karyotyping of 17 Avian Species

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      Abstract: Karyotypes of less than 10% of bird species are known. Using immunolocalization of the synaptonemal complex, the core structure of meiotic chromosomes at the pachytene stage, and centromere proteins, we describe male pachytene karyotypes of 17 species of birds. This method enables higher resolution than the conventional analyses of metaphase chromosomes. We provide the first descriptions of the karyotypes of 3 species (rook, Blyth’s reed warbler, and European pied flycatcher), correct the published data on the karyotypes of 10 species, and confirm them for 4 species. All passerine species examined have highly conservative karyotypes, 2n = 80–82 with 7 pairs of macrochromosomes (including the ZZ sex chromosome pair which was not unambiguously distinguished from other macrochromosomes in most species) and 33–34 pairs of microchromosomes. In all of them, but not in the common cuckoo, we revealed single copies of the germline-restricted chromosomes varying in size and morphology even between closely related species. This indicates a fast evolution of this additional chromosome. The interspecies differences concern the sizes of the macrochromosomes, morphology of the microchromosomes, and sizes of the centromeres. The pachytene cells of the gouldian finch, brambling, and common linnet contain heteromorphic synaptonemal complexes indicating heterozygosity for inversions or centromere shifts. The European pied flycatcher, gouldian finch, and domestic canary have extended centromeres in several macro- and microchromosomes.
      Cytogenet Genome Res
      PubDate: Fri, 20 May 2022 09:57:05 +020
       
  • Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing
           Loss: The First Portuguese Cohort Study

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      Abstract: Next-generation sequencing (NGS) technologies revolutionized the molecular diagnosis of sensorineural hearing loss (SNHL) and are now a standard of care. In this study, 71 Portuguese probands with hereditary SNHL were assessed by whole-exome sequencing (WES) targeting a panel of 158 genes related to SNHL, aiming to evaluate the diagnostic yield of this methodological approach and to report the spectrum of variants. Patients with either nonsyndromic or syndromic SNHL were included. Also, patients were previously screened for variants in the GJB2 gene and for duplications/deletions in the GJB6 gene. Causative variants in 11 different genes were identified in 15 (21.1%) out of 71 probands, 5 of which had associated syndromes. In 6 other patients (8.5%), presumptive causative variants were identified in MYO15A, TMIE, TBC1D24, SPMX, GJB3, PCDH15, and CDH23 genes, uncovering a potential case of digenic Usher syndrome. The study was inconclusive in 20 probands (28.2%), in 19 due to lack of segregation analysis and in one due to uncertain phenotype-genotype matching. In the remaining 30 patients (42.3%) no potentially causative variants were identified. The diagnostic yield did not significantly vary according to the age of hearing-impairment onset. As the first study on the application of NGS technologies in SNHL based on a Portuguese cohort, our results may contribute to characterize the spectrum of variants related to SNHL in the Portuguese population. Additionally, the present study provides new insights into the contribution of MYO3A, TECTA, EDNRB, TBC1D24, and GJB3 genes to SNHL. For the significant number of undiagnosed patients, reanalysis of WES data – either for a broader gene panel or in a non-targeted approach – may be considered.
      Cytogenet Genome Res
      PubDate: Tue, 17 May 2022 13:49:43 +020
       
  • Putative Condition-Dependent Viability Selection in Wild-Type Stocks of
           Drosophila pseudoobscura

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      Abstract: Meiotic recombination rates vary in response to intrinsic and extrinsic factors. Recently, heat stress has been shown to reveal plasticity in recombination rates in Drosophila pseudoobscura. Here, a combination of molecular genotyping and X-linked recessive phenotypic markers were used to investigate differences in recombination rates due to heat stress. In addition, haplotypes from the genetic crosses were compared to test if they deviated from equal proportions, which would indicate viability selection. To avoid this potential bias, SNP genotyping markers overlapping the regions assayed with mutant markers were used to further investigate recombination rate. Interestingly, skews in haplotype frequency were consistent with the fixation of alleles in the wild-type stocks used that are unfit at high temperature. Evidence of viability selection due to heat stress in the wild-type haplotypes was most apparent on days 7–9 when more mutant non-crossover haplotypes were recovered in comparison to wild type (p #x3c; 0.0001). Recombination analysis using SNP markers showed days 9–10 as significantly different due to heat stress in 2 pairs of consecutive SNP markers (p = 0.018; p = 0.015), suggesting that during this time period the recombination rate is most sensitive to heat stress. This peak timing for recombination plasticity is consistent with Drosophila melanogaster based on a comparison of similarly timed key meiotic events, enabling future mechanistic work of temperature stress on recombination rate.
      Cytogenet Genome Res
      PubDate: Fri, 06 May 2022 09:15:57 +020
       
  • Karyotype Evolution of Talking Thorny Catfishes Anadoras (Doradidae,
           Astrodoradinae): A Process Mediated by Structural Rearrangements and
           Intense Reorganization of Repetitive DNAs

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      Abstract: Anadoras is a thorny catfish genus widespread through the Amazon and Paraguay river basins. It includes 2 nominal species, A. grypus and A. weddellii, plus Anadoras sp. “araguaia,” an undescribed species only recognized morphologically. Since Anadoras occupies a basal position within the Astrodoradinae phylogeny, it is crucial to identify its cytogenetic features to comprehend the mechanisms involved in the chromosomal diversification of this subfamily. Therefore, we performed a comparative cytogenetic analysis including all species of Anadoras. Furthermore, we applied a species delimitation analysis based on 600 bp of the mitochondrial cytochrome oxidase subunit 1 (CO1) gene to investigate the taxonomic status of the species. Cytogenetic markers revealed a high degree of similarity among Anadoras weddellii and Anadoras sp. “araguaia,” both have 2n = 56 chromosomes (24m + 10sm + 22st/a), single NOR sites on acrocentric pair 28, and 5S rDNA sites on submetacentric pair 15. A. grypus has the most divergent chromosomal characteristics because, even though it also has 2n = 56 chromosomes, it exhibits several differences in the chromosome formula, heterochromatin distribution, and number/position of the rDNA sites. In sum, we believe that the chromosome diversification of Anadoras is due to 4 mechanisms: centric fusion, pericentric/paracentric inversions, nonreciprocal translocations, and activity of transposable elements. Additionally, our phylogenetic tree revealed well-supported clades and, by barcode species delimitation analysis, confirmed the existence of 3 molecular operational taxonomic units, including the putative new species Anadoras sp. “araguaia.”
      Cytogenet Genome Res
      PubDate: Mon, 02 May 2022 13:20:24 +020
       
  • Cytogenomic Analysis of Long-Term Epilepsy-Associated Tumors Using an
           Array-Based CGH Strategy

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      Abstract: A palette of copy number changes in long-term epilepsy-associated tumors (LEATs) have been reported, but the data are heterogeneous. To better understand the molecular basis underlying the development of LEATs, we performed array-comparative genomic hybridization analysis to investigate chromosomal imbalances across the entire genome in 8 cases of LEATs. A high number of aberrations were found in 4 patients, among which deletions predominated. Both whole-chromosome and regional abnormalities were observed, including monosomy 19, deletion of 1p, deletions of 4p, 12p, and 22q, and gain of 20p. The common altered regions are located mainly on chromosomes 19 and 4p, identifying genes potentially involved in biological processes and cellular mechanisms related to tumorigenesis. Our study highlights new genomic alterations and reinforces others previously reported, offering new molecular insights that may help in diagnosis and therapeutic decision-making.
      Cytogenet Genome Res
      PubDate: Wed, 27 Apr 2022 11:23:40 +020
       
 
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