Results 91 to 100 of about 91,924 (199)

Functional insights into a rare X–autosome rearrangement: Xq23–12p13 translocation in primary amenorrhea and recurrent depression

Romanian Journal of Laboratory Medicine
Chromosomal translocations, particularly X–autosome rearrangements, are rare and can produce complex clinical phenotypes even in carriers who appear phenotypically normal.
Yücel İlyas, Erdal Gülbahar Güzel, Binici Mahir, Oral Diclehan, Balkan Mahmut, Ademoğlu Elif, Tekeş Selahattin, İpekçi Mert   +7 more
doaj   +1 more source

Animal models for human contiguous gene syndromes and other genomic disorders

Genetics and Molecular Biology, 2004
Genomic disorders refer to a group of syndromes caused by DNA rearrangements, such as deletions and duplications, which result in an alteration of normal gene dosage.
Katherina Walz, Patricia Fonseca, James R. Lupski   +2 more
doaj   +1 more source

A new species in the major malaria vector complex sheds light on reticulated species evolution [PDF]

, 2019
Complexes of closely related species provide key insights into the rapid and independent evolution of adaptive traits. Here, we described and studied Anopheles fontenillei sp.n., a new species in the Anopheles gambiae complex that we recently discovered ...
Akone-Ella O., Ayala D., Barron M. G., Costantini C., Gonzalez J., Kengne P., Ngangue M. F., Paupy C., Pombi M., Rahola N., Simard F., Wilson-Bahun T. A.   +11 more
core   +1 more source

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency

Human Genomics
Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and loss.
V. Alesi, S. Genovese, M. C. Roberti, E. Sallicandro, S. Di Tommaso, S. Loddo, V. Orlando, D. Pompili, C. Calacci, V. Mei, E. Pisaneschi, M. V. Faggiano, A. Morgia, C. Mammì, G. Astrea, R. Battini, M. Priolo, M. L. Dentici, R. Milone, A. Novelli   +19 more
doaj   +1 more source

BAC-FISH assays delineate complex chromosomal rearrangements in a case of post-Chernobyl childhood thyroid cancer [PDF]

, 2009
Structural chromosome aberrations are known hallmarks of many solid tumors. In the papillary form of thyroid cancer (PTC), for example, activation of the receptor tyrosine kinase (RTK) genes, RET and neurotrophic tyrosine kinase receptor type I (NTRK1)
Baumgartner, Adolf, Kwan, Johnson, Lu, Chun-Mei, Wang, Mei, Weier, Heinz-Ulrich G., Weier, Jingly F., Zitzelsberger, Horst F.   +6 more
core   +2 more sources

Complexity of chromosomal rearrangements in Down syndrome leukemia

Journal of Cancer Research and Therapeutics, 2017
Reports on imbalanced HSA21 gene expression and chromosomal rearrangements on leukemogenesis, drug sensitivity, and treatment outcome of leukemia in Down syndrome (DS) are limited. DS has been recognized as one of the most common leukemia-predisposing syndromes with unique clinical features, significant differences in treatment outcome and treatment ...
Bani Bandana, Ganguly, Nitin N, Kadam, Prakash K, Mandal   +2 more
openaire   +2 more sources

De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue

Frontiers in Genetics, 2020
Small supernumerary marker chromosomes (SMCs) are rare cytogenetic abnormalities. De novo small SMCs, particularly those combined with uniparental disomy (UPD), are assumed to result from incomplete trisomy rescue.
Keiko Matsubara, Kaede Yanagida, Toshiro Nagai, Masayo Kagami, Maki Fukami   +4 more
doaj   +1 more source

Rhabdomyosarcoma: Advances in Molecular and Cellular Biology. [PDF]

, 2015
Rhabdomyosarcoma (RMS) is the most common soft tissue malignancy in childhood and adolescence. The two major histological subtypes of RMS are alveolar RMS, driven by the fusion protein PAX3-FKHR or PAX7-FKHR, and embryonic RMS, which is usually ...
Duan, Zhenfeng, Guo, Wei, Hornicek, Francis J, Mankin, Henry J, Shen, Jacson K, Sun, Xin   +5 more
core   +3 more sources

Is now the time for molecular driven therapy for diffuse large B-cell lymphoma? [PDF]

, 2017
INTRODUCTION: Recent genetic and molecular discoveries regarding alterations in diffuse large B-cell lymphoma (DLBCL) deeply changed the approach to this lymphoproliferative disorder.
Ansuinelli, Michela, DE ANGELIS, Federico, DI ROCCO, Alice, Foa, Roberto, Martelli, Maurizio   +4 more
core   +1 more source

Reconstruction of ancestral chromosome architecture and gene repertoire reveals principles of genome evolution in a model yeast genus

, 2016
International audienceReconstructing genome history is complex but necessary to reveal quantitative principles governing genome evolution. Such reconstruction requires recapitulating into a single evolutionary framework the evolution of genome ...
Agier, Nicolas, Blanpain, Lou, Carbone, Alessandra, Devillers, Hugo, Drillon, Guénola, Dubois, Kenny, Fischer, Gilles, Fleiss, Aubin, Gillet-Markowska, Alexandre, Graziani, Stéphane, Huu-Vang, Nguyen, Lafontaine, Ingrid, Llorente, Bertrand, Meyniel, Jean-Philippe, Neuvéglise, Cécile, Poirel, Marion, Reisser, Cyrielle, Sarilar, Véronique, Schacherer, Joseph, Schott, Jonathan, Vakirlis, Nikolaos   +20 more
core   +3 more sources