Lee, LingSze Montiel, Eugenia E. Valenzuela, Nicole
Published in
Cytogenetic and Genome Research
The discovery of sex chromosome systems in non-model organisms has elicited growing recognition that sex chromosomes evolved via diverse paths that are not fully elucidated. Lineages with labile sex determination, such as turtles, hold critical cues, yet data are skewed toward hide-neck turtles (suborder Cryptodira) and scant for side-neck turtles ...
Tumini, Stefano Alfonsi, Melissa Carinci, Silvia Morizio, Elisena Antonucci, Ivana Gatta, Valentina Lisi, Gabriele Lelli Chiesa, Pierluigi Calabrese, Giuseppe Stuppia, Liborio
...
Published in
Cytogenetic and Genome Research
VACTERL association is defined by the occurrence of congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, and limb defects. No genetic alterations have been discovered except for some sporadic chromosomal rearrangements and gene mutations. We report...
Uehara, Erika Hattori, Atsushi Shima, Hirohito Ishiguro, Akira Abe, Yu Ogata, Tsutomu Ogawa, Eishin Fukami, Maki
Published in
Cytogenetic and Genome Research
Unbalanced translocations of Y-chromosomal fragments harboring the sex-determining region Y gene (SRY) to the X chromosome or an autosome result in 46,XX and 45,X testicular disorders of sex development (DSD), respectively. Of these, Y;autosome translocation is an extremely rare condition. Here, we identified a 20-year-old man with a 45,X,t(Y;7)(q1...
Gunski, Ricardo J. Kretschmer, Rafael Santos de Souza, Marcelo de Oliveira Furo, Ivanete Barcellos, Suziane A. Costa, Alice L. Cioffi, Marcelo B. de Oliveira, Edivaldo H.C. del Valle Garnero, Analía
Published in
Cytogenetic and Genome Research
Among birds, species with the ZZ/ZW sex determination system generally show significant differences in morphology and size between the Z and W chromosomes (with the W usually being smaller than the Z). In the present study, we report for the first time the karyotype of the spot-flanked gallinule (Gallinula melanops) by means of classical and molecu...
Li, Sheng Chen, Chengzhen Chai, Menglong Wang, Jiawei Yuan, Bao Gao, Yan Jiang, Hao Zhang, Jiabao
Published in
Cytogenetic and Genome Research
Bone morphogenetic protein 2 (BMP2) can mediate the signaling of R-Smads and regulate different biological functions, including adipocyte differentiation. Long noncoding RNAs (lncRNAs) can be involved in many important biological processes, including fat metabolism, as miRNA sponges. This study aimed to investigate the molecular mechanism of fat de...
Xu, Fei Song, Yingchun Guo, Ai
Published in
Cytogenetic and Genome Research
Osteoarthritis (OA) is a degenerative disease characterized by progressive articular cartilage destruction and joint marginal osteophyte formation with different degrees of synovitis. Docosahexaenoic acid (DHA) is an unsaturated fatty acid with anti-inflammatory, antioxidant, and antiapoptotic functions. In this study, the human chondrosarcoma cell...
Milioto, Vanessa Vlah, Sara Mazzoleni, Sofia Rovatsos, Michail Dumas, Francesca
Published in
Cytogenetic and Genome Research
Classical cytogenetics and mapping of 18S-28S rDNA and (TTAGGG)n sequences by fluorescence in situ hybridization (FISH) was performed on Graphiurus platyops (GPL) and Graphiurus ocularis (GOC) metaphases with the aim to characterize the genomes. In both species, inverted DAPI karyotypes showed the same diploid number, 2n = 46, and hybridization of ...
Torgutalp, Murat Durmaz, Ceren D. Karabulut, Halil G. Seifert, Wenke Horn, Denise Akkaya, Zehra Turgay, Murat
Published in
Cytogenetic and Genome Research
Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. PHO is caused by homozygous mut...
Kuroda, Masamichi Fujimoto, Takafumi Murakami, Masaru Yamaha, Etsuro Arai, Katsutoshi
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Cytogenetic and Genome Research
Gonochoristic wild-type dojo loaches (Misgurnus anguillicaudatus) are diploid (2n = 50) and reproduce bisexually. However, sympatric clonal diploids generate unreduced diploid isogenic eggs that develop gynogenetically. Clone-origin triploidy arises following the incorporation of a haploid wild-type sperm nucleus into the diploid egg. Triploid fema...
Park, Ji S. Ko, Jung M. Chae, Jong-Hee
Published in
Cytogenetic and Genome Research
X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is the most common form of ectodermal dysplasia, presenting with the triad of hypotrichosis, hypodontia, and hypohidrosis. This disorder is caused by mutations in EDA, which encodes ectodysplasin A, a member of the tumor necrosis factor superfamily. In this study, we describe clinical ...
