0000000000472431

AUTHOR

Xiaonan Zhao

showing 3 related works from this author

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

2018

The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has not previously been implicated in human disease. Here, we present a cohort of 18 individuals with mild ID and behavioral issues who are haploinsufficient for NFIB. Ten individuals harbored overlapping microdeletions of the chromosomal 9p23-p22.2 region, ranging in size from 225 kb to 4.3 Mb. Five additional subjects had point sequence variations c…

Male0301 basic medicinechromosome 9p23Medical and Health SciencesCorpus CallosumCohort StudiesMice2.1 Biological and endogenous factorsMegalencephalyAetiologyChildAgenesis of the corpus callosumGenetics (clinical)PediatricGenetics & HeredityCerebral CortexMice KnockoutGeneticsSingle Nucleotidenuclear factor IBiological SciencesNFIBNFIXdevelopmental delayMental HealthNFIBCodon NonsenseNFIAintellectual disabilityChild Preschoolchromosome 9p22.3NeurologicalSpeech delayFemalemedicine.symptomHaploinsufficiencyAdultAdolescentKnockoutIntellectual and Developmental Disabilities (IDD)[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human geneticsBiologymacrocephalyPolymorphism Single NucleotideArticleYoung Adult03 medical and health sciencesRare DiseasesBehavioral and Social ScienceGeneticsmedicinemegalencephalyAnimalsHumansPolymorphismCodonPreschoolNeurosciencesMacrocephalymedicine.diseaseBrain DisordershaploinsufficiencyNFI Transcription Factors030104 developmental biologyNonsense[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsbiology.proteinagenesis of the corpus callosumAmerican journal of human genetics
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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

2016

Seuls les 100 premiers auteurs dont les auteurs INRA ont été entrés dans la notice. La liste complète des auteurs et de leurs affiliations est accessible sur la publication.; International audience; In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues…

[SDV]Life Sciences [q-bio]autophagosomeReview Articleddc:616.07stressstreLC3MESH: AnimalsSettore MED/49 - Scienze Tecniche Dietetiche ApplicateSettore BIO/06 - Anatomia Comparata E Citologiachaperone-mediated autophagyComputingMilieux_MISCELLANEOUSSettore BIO/11Pharmacology. TherapySettore BIO/13standards [Biological Assay]autolysosomeMESH: Autophagy*/physiologylysosomemethods [Biological Assay]Biological AssaySettore BIO/17 - ISTOLOGIAErratumHumanBiochemistry & Molecular BiologySettore BIO/06physiology [Autophagy]Chaperonemediated autophagy[SDV.BC]Life Sciences [q-bio]/Cellular BiologyNOautophagy guidelines molecular biology ultrastructureautolysosome; autophagosome; chaperone-mediated autophagy; flux; LC3; lysosome; macroautophagy; phagophore; stress; vacuoleMESH: Biological Assay/methodsMESH: Computer Simulationddc:570Autolysosome Autophagosome Chaperonemediated autophagy Flux LC3 Lysosome Macroautophagy Phagophore Stress VacuoleAutophagyAnimalsHumansComputer SimulationSettore BIO/10ddc:612BiologyphagophoreMESH: HumansvacuoleAnimalLC3; autolysosome; autophagosome; chaperone-mediated autophagy; flux; lysosome; macroautophagy; phagophore; stress; vacuole; Animals; Biological Assay; Computer Simulation; Humans; Autophagy0601 Biochemistry And Cell BiologyfluxmacroautophagyMESH: Biological Assay/standards*Human medicineLC3; autolysosome; autophagosome; chaperone-mediated autophagy; flux; lysosome; macroautophagy; phagophore; stress; vacuole
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Erratum

2016

Author(s): Klionsky, DJ; Abdelmohsen, K; Abe, A; Abedin, MJ; Abeliovich, H; Arozena, AA; Adachi, H; Adams, CM; Adams, PD; Adeli, K; Adhihetty, PJ; Adler, SG; Agam, G; Agarwal, R; Aghi, MK; Agnello, M; Agostinis, P; Aguilar, PV; Aguirre-Ghiso, J; Airoldi, EM; Ait-Si-Ali, S; Akematsu, T; Akporiaye, ET; Al-Rubeai, M; Albaiceta, GM; Albanese, C; Albani, D; Albert, ML; Aldudo, J; Algul, H; Alirezaei, M; Alloza, I; Almasan, A; Almonte-Beceril, M; Alnemri, ES; Alonso, C; Altan-Bonnet, N; Altieri, DC; Alvarez, S; Alvarez-Erviti, L; Alves, S; Amadoro, G; Amano, A; Amantini, C; Ambrosio, S; Amelio, I; Amer, AO; Amessou, M; Amon, A; An, Z; Anania, FA; Andersen, SU; Andley, UP; Andreadi, CK; Andrieu-Ab…

0301 basic medicineSettore BIO/06biologyCell Biology[SDV.BC]Life Sciences [q-bio]/Cellular Biologybiology.organism_classificationCell biologyInterpretation (model theory)03 medical and health sciencesArama030104 developmental biologyMolecular BiologyHumanitiesComputingMilieux_MISCELLANEOUS
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