Craniosynostosis and Chromosomal Alterations

2011 ◽  
pp. 152-164 ◽  
Author(s):  
M.R. Passos-Bueno ◽  
R.D. Fanganiello ◽  
F.S. Jehee
Keyword(s):  
Chromosomal Alterations

Correlation between poliomyelitisvirus-reproduction-cycle, chromosomal alterations and lysosomal enzymes

1969 ◽  
Vol 27 (2-4) ◽  
pp. 115-127 ◽  
Author(s):  
H. D. Bartsch ◽  
K. -O. Habermehl ◽  
W. Diefenthal
Keyword(s):  
Lysosomal Enzymes ◽  
Chromosomal Alterations ◽  
Reproduction Cycle

Chromosomal alterations and male infertility

2000 ◽  
Vol 23 (10) ◽  
pp. 677-683 ◽  
Author(s):  
A. Antonelli ◽  
L. Gandini ◽  
P. Petrinelli ◽  
L. Marcucci ◽  
R. Elli ◽  
...  
Keyword(s):  
Male Infertility ◽  
Chromosomal Alterations

LOW FREQUENCY OF CHROMOSOMAL ALTERATIONS IN CGH ANALYSIS IN LOW-RISK PAPILLARY BLADDER TUMORS WITH FGFR3 MUTATIONS

2006 ◽  
Vol 5 (14) ◽  
pp. 799
Author(s):  
K. Junker ◽  
J. Van Oers ◽  
E. Zwarthoff ◽  
I. Kania ◽  
J. Schubert ◽  
...  
Keyword(s):  
Low Frequency ◽  
Low Risk ◽  
Bladder Tumors ◽  
Chromosomal Alterations ◽  
Fgfr3 Mutations

scholarly journals Chromosomal alterations in the clonal evolution to the metastatic stage of squamous cell carcinomas of the lung

2000 ◽  
Vol 82 (1) ◽  
pp. 65-73 ◽  
Author(s):  
S Petersen ◽  
M Aninat-Meyer ◽  
K Schlüns ◽  
K Gellert ◽  
M Dietel ◽  
...  
Keyword(s):  
Squamous Cell ◽  
Clonal Evolution ◽  
Squamous Cell Carcinomas ◽  
Chromosomal Alterations

scholarly journals Next Generation Cytogenetics in Myeloid Hematological Neoplasms: Detection of CNVs and Translocations

Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 3001
Author(s):  
María Chicano ◽  
Diego Carbonell ◽  
Julia Suárez-González ◽  
Sergio Lois ◽  
Mercedes Ballesteros-Culebras ◽  
...  
Keyword(s):  
Mutational Analysis ◽  
Lymphoblastic Leukemia ◽  
Copy Number Variations ◽  
Next Generation ◽  
Trisomy 8 ◽  
Chromosomal Alterations ◽  
Hematological Neoplasms ◽  
Myeloid Neoplasm ◽  
Myeloid Neoplasms ◽  
Conventional Cytogenetics

Conventional cytogenetics are the gold standard for the identification of chromosomal alterations recurrent in myeloid neoplasms. Some next-generation sequencing (NGS) panels are designed for the detection of copy number variations (CNV) or translocations; however, their use is far from being widespread. Here we report on the results of a commercial panel including frequent mutations, CNVs and translocations in myeloid neoplasms. Frequent chromosomal alterations were analyzed by NGS in 135 patients with myeloid neoplasms and three with acute lymphoblastic leukemia. NGS analysis was performed using the enrichment-capture Myeloid Neoplasm-GeneSGKit (Sistemas Genómicos, Spain) gene panel including 35 genes for mutational analysis and frequent CNVs and translocations. NGS results were validated with cytogenetics and/or MLPA when possible. A total of 66 frequent alterations included in NGS panel were detected, 48 of them detected by NGS and cytogenetics. Ten of them were observed only by cytogenetics (mainly trisomy 8), and another eight only by NGS (mainly deletion of 12p). Aside from this, 38 secondary CNVs were detected in any of the genes included mainly for mutational analysis. NGS represents a reliable complementary source of information for the analysis of CNVs and translocations. Moreover, NGS could be a useful tool for the detection of alterations not observed by conventional cytogenetics.

scholarly journals Association of Chromosomal Alterations with Arsenite-Induced Tumorigenicity of Human HaCaT Keratinocytes in Nude Mice

2004 ◽  
Vol 112 (17) ◽  
pp. 1704-1710 ◽  
Author(s):  
Chia-Wen Chien ◽  
Ming-Chang Chiang ◽  
I-Ching Ho ◽  
Te-Chang Lee
Keyword(s):  
Nude Mice ◽  
Hacat Keratinocytes ◽  
Chromosomal Alterations

scholarly journals Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line.

1988 ◽  
Vol 106 (3) ◽  
pp. 761-771 ◽  
Author(s):  
P Boukamp ◽  
R T Petrussevska ◽  
D Breitkreutz ◽  
J Hornung ◽  
A Markham ◽  
...  
Keyword(s):  
Epithelial Cell ◽  
Cell Line ◽  
Human Skin ◽  
Cell Lines ◽  
Hacat Cell ◽  
Epithelial Cell Line ◽  
Spontaneous Transformation ◽  
Chromosomal Alterations ◽  
Hacat Cell Line

In contrast to mouse epidermal cells, human skin keratinocytes are rather resistant to transformation in vitro. Immortalization has been achieved by SV40 but has resulted in cell lines with altered differentiation. We have established a spontaneously transformed human epithelial cell line from adult skin, which maintains full epidermal differentiation capacity. This HaCaT cell line is obviously immortal (greater than 140 passages), has a transformed phenotype in vitro (clonogenic on plastic and in agar) but remains nontumorigenic. Despite the altered and unlimited growth potential, HaCaT cells, similar to normal keratinocytes, reform an orderly structured and differentiated epidermal tissue when transplanted onto nude mice. Differentiation-specific keratins (Nos. 1 and 10) and other markers (involucrin and filaggrin) are expressed and regularly located. Thus, HaCaT is the first permanent epithelial cell line from adult human skin that exhibits normal differentiation and provides a promising tool for studying regulation of keratinization in human cells. On karyotyping this line is aneuploid (initially hypodiploid) with unique stable marker chromosomes indicating monoclonal origin. The identity of the HaCaT line with the tissue of origin was proven by DNA fingerprinting using hypervariable minisatellite probes. This is the first demonstration that the DNA fingerprint pattern is unaffected by long-term cultivation, transformation, and multiple chromosomal alterations, thereby offering a unique possibility for unequivocal identification of human cell lines. The characteristics of the HaCaT cell line clearly document that spontaneous transformation of human adult keratinocytes can occur in vitro and is associated with sequential chromosomal alterations, though not obligatorily linked to major defects in differentiation.

scholarly journals Alterations and Chromosomal Variants in the Ecuadorian Population

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
César Paz-y-Miño ◽  
Nadia Cumbal ◽  
Santiago Araujo ◽  
Ma. Eugenia Sánchez
Keyword(s):  
Rare Diseases ◽  
Chromosomal Aberrations ◽  
Medical Genetics ◽  
Banding Technique ◽  
Central Component ◽  
Chromosomal Alterations ◽  
Medical Specialties ◽  
The Subject ◽  
Chromosomal Variants

Medical genetics is a field marked by fast progress. Even though it was at one point confined to a group of relatively rare diseases, today it has become a central component in the understanding of disorders and it is the subject of interest for all medical specialties. This paper, shares data on the chromosomal alterations and variations that have been diagnosed in Ecuadorian patients since 1998. A total of 2,636 individual cases have been analyzed by G-banding technique until February 2012. The present work shows this collection of data and the important findings that have appeared throughout these years in hopes that it can contribute to have a deeper understanding of the incidence of chromosomal aberrations and alterations in the Ecuadorian population.

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