Frequency of the Loss of Heterozygosity of the NF2 Gene in Sporadic Spinal Schwannomas

Carvalho, Raimundo Miranda de; Anna, Carla de Castro Sant’; Pinto, Giovanny R.; Paschoal, Eric Homero Albuquerque; Tuji, Fabrício Mesquita; Borges, Bárbara do Nascimento; Soares, Paulo Cardoso; Júnior, Alberto Gomes Ferreira; Rey, Juan A.; Chaves, Luiz Cláudio; Burbano, Rommel Rodrı́guez

doi:10.21873/anticanres.12455

Cited by 4 publications

(3 citation statements)

References 35 publications

(43 reference statements)

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“…Wool traits are an important economic trait in fine wool sheep [27] . The use of molecular markers has become an important phenotypic method, and it have been widely used in genetics and breeding [28] . Wool fineness and the natural length of wool are important factors in determining the economic value of wool.…”

Section: Discussionmentioning

confidence: 99%

Avustralya Merinosu ve Çin Merinosu Hibritlerinde Yün Miktarı İle Mikrosatellit Arasındaki İlişkinin Araştırılması

Zhai¹,

Xie²,

Yang³

et al. 2019

Kafkas Univ Vet Fak Derg

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This work was carried out to analyze of effects of twelve microsatellite loci and genetic heterozygosity on wool fineness and natural length, which are important indicators for evaluating of wool quality. 131 individuals from F2 and F3 generations of Australian Merino and Chinese Merino sheep (Xinjiang military reclamation type) mating were used as experimental subjects. Five loci on chromosome 1 and seven loci on chromosome 6 were determined as related with fineness and natural length of wool. The results showed that 3 loci significantly associated with wool fiber diameter (WFD), and 4 loci were significantly related to wool natural length (WNL). WFD increased by approximately 0.2%-2.5%, and WNL decreased by 2%-10.93%, and also heterozygosity increased by 0.05 in the range of 0.5 to 1.0. These results could partially explain the molecular mechanism of heterosis for sheep wool quality. Provide theoretical support for the effective exploitation and utilization of this precious resource.

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Section: Discussionmentioning

confidence: 99%

Avustralya Merinosu ve Çin Merinosu Hibritlerinde Yün Miktarı İle Mikrosatellit Arasındaki İlişkinin Araştırılması

Zhai¹,

Xie²,

Yang³

et al. 2019

Kafkas Univ Vet Fak Derg

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“…The molecular alterations of VS include NF2 gene mutation/loss/mitotic recombination [5][6][7], abnormal gene expression [8], involvement of immunological factors [9,10], deoxyribonucleic acid (DNA) methylation [11,12] and change in growth factors [13][14][15].…”

Section: Pathophysiology Of Vsmentioning

confidence: 99%

Therapy of Sporadic and NF2-Related Vestibular Schwannoma

Yao

Alahmari

Temel

et al. 2020

Cancers

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Vestibular schwannoma (VS) is a benign primary brain tumor that occurs sporadic or as part of a genetic syndrome. The most common cause is the mutation of the NF2 tumor suppressor gene that is involved in the production of the protein merlin. Merlin plays a role in cell growth and cell adhesion. In patients with NF2, the VSs arise bilaterally and coincide with other brain tumors. In sporadic VS, the tumor is typically unilateral and does not coincide in combination with other tumors. MRI is the standard imaging technique and can be used to assess the size and aspect of the tumor as well as the progression of disease. The preferred management of large VS in both VS types is surgery with or without adjuvant radiation. The management for the medium- or small-sized VS includes wait and scan, radiotherapy and/or surgery. This choice depends on the preference of the patient and institutional protocols. The outcomes of surgical and radiotherapy treatments are improving due to progress in surgical equipment/approaches, advances in radiation delivery techniques and dose optimizations protocols. The main purpose of the management of VS is preserving function as long as possible in combination with tumor control.

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“…For FISH evaluation, 200 randomly chosen cells stained with the probe in each allele of the PTEN gene per sample were counted. Signals of homozygous PTEN deletion were considered when a simultaneous lack of both PTEN locus signals in 25%-30% of the analyzed cells' scored nuclei was observed (23)(24)(25).…”

Section: Fluorescence In Situ Hybridization (Fish)mentioning

confidence: 99%

Significance of P16^INK4A Expression and PTEN Loss of Heterozygosity in Human Papilloma Virus-related Oral Squamous Cell Carcinoma

et al. 2020

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Background/Aim: p16 and PTEN are tumor suppressor genes. Loss of these molecules in oral squamous cell carcinoma (OSCC) has been studied worldwide. In this study, we explored whether p16 cooperates with inactive PTEN during the pathogenesis of OSCC, especially in regard to tumor aggressiveness and proliferation. Materials and Methods: Immunocytochemistry and western blot analysis were used to examine the levels of p16 and PTEN. Sequencing analysis was performed to identify mutations in the PTEN gene and HPV infection. Fluorescence in situ hybridization was used to examine the presence of the PTEN locus. Results: PTEN analysis showed high positivity in T4 samples. HPV-positive tumors correlated with tabagism, tumor size 3 and 4, disease stages 3 and 4, presence of lymph node metastasis (N1) and poor differentiation. Immunoexpression of p16 was strongly correlated with the presence of HPV. Conclusion: PTEN demonstrated a higher reactivity in advanced disease stages and p16 was strongly associated with HPV. Viral presence decreases tumor aggressiveness. Patients with advanced stage lesions demonstrated lower survival rate.

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Frequency of the Loss of Heterozygosity of the NF2 Gene in Sporadic Spinal Schwannomas

Abstract: The genetic alterations observed in the NF2 gene indicated that spinal schwannomas are associated with genetic alterations also found in other schwannomas and type 2 Neurofibromatosis, which reinforces the etiological role of this gene.

Cited by 4 publications

References 35 publications

Avustralya Merinosu ve Çin Merinosu Hibritlerinde Yün Miktarı İle Mikrosatellit Arasındaki İlişkinin Araştırılması

Avustralya Merinosu ve Çin Merinosu Hibritlerinde Yün Miktarı İle Mikrosatellit Arasındaki İlişkinin Araştırılması

Therapy of Sporadic and NF2-Related Vestibular Schwannoma

Significance of P16^INK4A Expression and PTEN Loss of Heterozygosity in Human Papilloma Virus-related Oral Squamous Cell Carcinoma

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Frequency of the Loss of Heterozygosity of the NF2 Gene in Sporadic Spinal Schwannomas

Abstract: The genetic alterations observed in the NF2 gene indicated that spinal schwannomas are associated with genetic alterations also found in other schwannomas and type 2 Neurofibromatosis, which reinforces the etiological role of this gene.

Cited by 4 publications

References 35 publications

Avustralya Merinosu ve Çin Merinosu Hibritlerinde Yün Miktarı İle Mikrosatellit Arasındaki İlişkinin Araştırılması

Avustralya Merinosu ve Çin Merinosu Hibritlerinde Yün Miktarı İle Mikrosatellit Arasındaki İlişkinin Araştırılması

Therapy of Sporadic and NF2-Related Vestibular Schwannoma

Significance of P16INK4A Expression and PTEN Loss of Heterozygosity in Human Papilloma Virus-related Oral Squamous Cell Carcinoma

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Product

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Significance of P16^INK4A Expression and PTEN Loss of Heterozygosity in Human Papilloma Virus-related Oral Squamous Cell Carcinoma