MEDICINA MOLECULAR
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Universidad Autónoma de Madrid
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Universidad Autónoma de Madrid (13)
2023
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Characterization of mutant versions of the R-RAS2/TC21 GTPase found in tumors
Oncogene, Vol. 42, Núm. 5, pp. 389-405
2022
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A hotspot mutation targeting the R-RAS2 GTPase acts as a potent oncogenic driver in a wide spectrum of tumors
Cell Reports, Vol. 38, Núm. 11
2021
2020
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Novel dominant kcnq2 exon 7 partial in-frame duplication in a complex epileptic and neurodevelopmental delay syndrome
International Journal of Molecular Sciences, Vol. 21, Núm. 12, pp. 1-11
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Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism
Brain, Vol. 143, Núm. 7, pp. 2207-2219
2019
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The PSMA8 subunit of the spermatoproteasome is essential for proper meiotic exit and mouse fertility
PLoS Genetics, Vol. 15, Núm. 8
2014
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Early-onset acral basal cell carcinomas in Gorlin syndrome
British Journal of Dermatology, Vol. 171, Núm. 5, pp. 1227-1229
2013
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Ectodermal dysplasia-skin fragility syndrome: A novel mutation in the PKP1 gene
Clinical and Experimental Dermatology, Vol. 38, Núm. 7, pp. 787-790
2011
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Identification and molecular characterization of the mammalian α-kleisin RAD21L
Cell Cycle, Vol. 10, Núm. 9, pp. 1477-1487
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The cohesin subunit RAD21L functions in meiotic synapsis and exhibits sexual dimorphism in fertility
EMBO Journal, Vol. 30, Núm. 15, pp. 3091-3105
2010
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X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient
Dermatology, Vol. 221, Núm. 2, pp. 113-116
2008
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Shugoshin-2 is essential for the completion of meiosis but not for mitotic cell division in mice
Genes and Development, Vol. 22, Núm. 17, pp. 2400-2413
2003
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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
Human Mutation, Vol. 22, Núm. 4, pp. 301-312