Search Results - "Lapi E"

SUMO-modified nuclear cyclin D1 bypasses Ras-induced senescence.

Authors: Wang, X. D. Lapi, E. Sullivan, A. et al.

Source: Cell Death & Differentiation. Feb2011, Vol. 18 Issue 2, p304-314. 11p. 1 Black and White Photograph, 5 Graphs.

S100A2 gene is a direct transcriptional target of p53 homologues during keratinocyte differentiation.

Authors: Lapi, E. Iovino, A. Fontemaggi, G. et al.

Source: Oncogene. 6/22/2006, Vol. 25 Issue 26, p3628-3637. 10p. 6 Graphs.

Mutant p53 gain of function: reduction of tumor malignancy of human cancer cell lines through abrogation of mutant p53 expression.

Authors: Bossi, G. Lapi, E. Strano, S. et al.

Source: Oncogene. 1/12/2006, Vol. 25 Issue 2, p304-309. 6p.

Twin zygosity studies with the formula from DNA-View's Kinship Module after molecular analyses by polymorphic markers

Authors: Ricci, U. Lapi, E. Guarducci, S. et al.

Source: International Congress Series. Feb2004, Vol. 1261, p452. 2p.

Novel multimodal molecular imaging of Vitamin H (Biotin) transporter activity in the murine placenta.

Authors: Noam, Ben Eliezer Marina, Lysenko Inbal, Biton E. et al.

Source: Scientific Reports. 11/27/2020, Vol. 10 Issue 1, pN.PAG-N.PAG. 1p.

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.

Authors: Wieland, I. Weidner, C. Ciccone, R. et al.

Source: Clinical Genetics. Dec2007, Vol. 72 Issue 6, p506-516. 11p. 2 Diagrams, 5 Charts, 1 Graph.

STAG2 cohesin cooperates with DREAM to maintain quiescence and suppress tumourigenesis in the urothelium.

Authors: Ramal M Lapi E Kalisz M et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Oct 13. Date of Electronic Publication: 2025 Oct 13.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

STAG2 loss-of-function affects short-range genomic contacts and modulates the basal-luminal transcriptional program of bladder cancer cells.

Authors: Richart L Lapi E Pancaldi V et al.

Source: Nucleic acids research [Nucleic Acids Res] 2021 Nov 08; Vol. 49 (19), pp. 11005-11021.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.

Authors: Pignata L Sparago A Palumbo O et al.

Source: Genes [Genes (Basel)] 2021 Apr 16; Vol. 12 (4). Date of Electronic Publication: 2021 Apr 16.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

The urothelial gene regulatory network: understanding biology to improve bladder cancer management.

Authors: Ramal M Corral S Kalisz M et al.

Source: Oncogene [Oncogene] 2024 Jan; Vol. 43 (1), pp. 1-21. Date of Electronic Publication: 2023 Nov 23.

Publication Type: Journal Article; Review; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8711562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5594 (Electronic) Linking ISSN: 09509232 NLM ISO Abbreviation: Oncogene Subsets: MEDLINE

Urothelial organoids originating from Cd49f^high mouse stem cells display Notch-dependent differentiation capacity.

Authors: Santos CP Lapi E Martínez de Villarreal J et al.

Source: Nature communications [Nat Commun] 2019 Sep 27; Vol. 10 (1), pp. 4407. Date of Electronic Publication: 2019 Sep 27.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Authors: Smol T Petit F Piton A et al.

Source: Neurogenetics [Neurogenetics] 2018 May; Vol. 19 (2), pp. 93-103. Date of Electronic Publication: 2018 Mar 06.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Bone Status in a Patient with Insulin-Like Growth Factor-1 Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using Dual-Energy X-Ray Absorptiometry, Peripheral Quantitative Computed Tomography, and Quantitative Ultrasonography.

Authors: Pelosi P Lapi E Cavalli L et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2017 Sep 05; Vol. 8, pp. 227. Date of Electronic Publication: 2017 Sep 05 (Print Publication: 2017).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: PubMed not MEDLINE

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

Authors: Acuna-Hidalgo R Deriziotis P Steehouwer M et al.

Source: PLoS genetics [PLoS Genet] 2017 Mar 27; Vol. 13 (3), pp. e1006683. Date of Electronic Publication: 2017 Mar 27 (Print Publication: 2017).

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Epigenetic control of the immune system: a lesson from Kabuki syndrome.

Authors: Stagi S Gulino AV Lapi E et al.

Source: Immunologic research [Immunol Res] 2016 Apr; Vol. 64 (2), pp. 345-59.

Publication Type: Journal Article; Review

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 8611087 Publication Model: Print Cited Medium: Internet ISSN: 1559-0755 (Electronic) Linking ISSN: 0257277X NLM ISO Abbreviation: Immunol Res Subsets: MEDLINE

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.

Authors: Stagi S Lapi E Pantaleo M et al.

Source: BMC medical genetics [BMC Med Genet] 2015 Aug 23; Vol. 16, pp. 69. Date of Electronic Publication: 2015 Aug 23.

Publication Type: Case Reports; Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

Essential Roles of Cohesin STAG2 in Mouse Embryonic Development and Adult Tissue Homeostasis.

Authors: De Koninck M Lapi E Badía-Careaga C et al.

Source: Cell reports [Cell Rep] 2020 Aug 11; Vol. 32 (6), pp. 108014.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Authors: Micale L Augello B Maffeo C et al.

Source: Human mutation [Hum Mutat] 2014 Jul; Vol. 35 (7), pp. 841-50. Date of Electronic Publication: 2014 Apr 09.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome.

Authors: Stagi S Lapi E D'Avanzo MG et al.

Source: BMC medical genetics [BMC Med Genet] 2014 May 23; Vol. 15, pp. 61. Date of Electronic Publication: 2014 May 23.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.

Authors: Stagi S Lapi E Pantaleo M et al.

Source: BMC medical genetics [BMC Med Genet] 2014 Jan 30; Vol. 15, pp. 16. Date of Electronic Publication: 2014 Jan 30.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE