Search Results - "Burkhalter MD"

CRISPR and compound screens in a novel ex vivo tissue model identify DDR1 and ETA as regulators of cancer cell invasion.

Authors: Liu J Jiang W Wang X et al.

Source: Cellular & molecular biology letters [Cell Mol Biol Lett] 2026 May 06; Vol. 31 (1). Date of Electronic Publication: 2026 May 06.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 9607427 Publication Model: Electronic Cited Medium: Internet ISSN: 1689-1392 (Electronic) Linking ISSN: 14258153 NLM ISO Abbreviation: Cell Mol Biol Lett Subsets: MEDLINE

Cilia defects upon loss of WDR4 are linked to proteasomal hyperactivity and ubiquitin shortage.

Authors: Burkhalter MD Stiff T Maerz LD et al.

Source: Cell death & disease [Cell Death Dis] 2024 Sep 09; Vol. 15 (9), pp. 660. Date of Electronic Publication: 2024 Sep 09.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101524092 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-4889 (Electronic) NLM ISO Abbreviation: Cell Death Dis Subsets: MEDLINE

Casein kinase 1α essentially regulates thrombopoiesis by driving megakaryocyte maturation and cytoskeleton organization.

Authors: Kollotzek F Mott K Fischer M et al.

Source: Blood [Blood] 2025 Oct 16; Vol. 146 (16), pp. 1964-1978.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

Authors: Nauth T Philipp M Renner S et al.

Source: The Journal of clinical investigation [J Clin Invest] 2025 Oct 07; Vol. 135 (23). Date of Electronic Publication: 2025 Oct 07 (Print Publication: 2025).

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

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Authors: Buchert R Burkhalter MD Huridou C et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Feb 06; Vol. 112 (2), pp. 374-393. Date of Electronic Publication: 2025 Jan 16.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Fin clipping does not increase opercular beat rate in tricaine-treated zebrafish.

Authors: Burkhalter MD Philipp M

Source: Laboratory animals [Lab Anim] 2024 Dec; Vol. 58 (6), pp. 616-620. Date of Electronic Publication: 2024 Aug 19.

Publication Type: Journal Article

Journal Info: Publisher: Sage Country of Publication: England NLM ID: 0112725 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1758-1117 (Electronic) Linking ISSN: 00236772 NLM ISO Abbreviation: Lab Anim Subsets: MEDLINE

DNA Replication proteins in primary microcephaly syndromes.

Authors: Tingler M Philipp M Burkhalter MD

Source: Biology of the cell [Biol Cell] 2022 Jun; Vol. 114 (6), pp. 143-159. Date of Electronic Publication: 2022 Mar 25.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8108529 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1768-322X (Electronic) Linking ISSN: 02484900 NLM ISO Abbreviation: Biol Cell Subsets: MEDLINE

Pathway-specific effects of ADSL deficiency on neurodevelopment.

Authors: Dutto I Gerhards J Herrera A et al.

Source: ELife [Elife] 2022 Feb 08; Vol. 11. Date of Electronic Publication: 2022 Feb 08.

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

Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Aging Associates with Cilium Elongation and Dysfunction in Kidney and Pancreas.

Authors: Adametz F Müller A Stilgenbauer S et al.

Source: Advanced biology [Adv Biol (Weinh)] 2023 Dec; Vol. 7 (12), pp. e2300194. Date of Electronic Publication: 2023 Aug 03.

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

Journal Info: Publisher: Wiley-VCH GmbH Country of Publication: Germany NLM ID: 101775319 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2701-0198 (Electronic) Linking ISSN: 27010198 NLM ISO Abbreviation: Adv Biol (Weinh) Subsets: MEDLINE

Kinase Activity Is Not Required for G Protein-Coupled Receptor Kinase 4 Restraining mTOR Signaling during Cilia and Kidney Development.

Authors: Gerhards J Maerz LD Matthees ESF et al.

Source: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2023 Apr 01; Vol. 34 (4), pp. 590-606. Date of Electronic Publication: 2023 Jan 26.

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

Journal Info: Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE

SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication.

Authors: Halder S Torrecilla I Burkhalter MD et al.

Source: Nature communications [Nat Commun] 2019 Jul 17; Vol. 10 (1), pp. 3142. Date of Electronic Publication: 2019 Jul 17.

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

Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.

Authors: Burkhalter MD Sridhar A Sampaio P et al.

Corporate Authors: Burkhalter MD Sridhar A Sampaio P et al.

Source: The Journal of clinical investigation [J Clin Invest] 2019 May 16; Vol. 129 (7), pp. 2841-2855. Date of Electronic Publication: 2019 May 16.

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

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Resting cells rely on the DNA helicase component MCM2 to build cilia.

Authors: Casar Tena T Maerz LD Szafranski K et al.

Source: Nucleic acids research [Nucleic Acids Res] 2019 Jan 10; Vol. 47 (1), pp. 134-151.

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

Cholesterol and Phosphoinositides in Cilia Biology.

Authors: Sailer SA Burkhalter MD Philipp M

Source: Advances in experimental medicine and biology [Adv Exp Med Biol] 2023; Vol. 1422, pp. 121-142.

Publication Type: Journal Article; Review

Journal Info: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0121103 Publication Model: Print Cited Medium: Print ISSN: 0065-2598 (Print) Linking ISSN: 00652598 NLM ISO Abbreviation: Adv Exp Med Biol Subsets: MEDLINE

Limitations and opportunities in the pharmacotherapy of ciliopathies.

Authors: Duong Phu M Bross S Burkhalter MD et al.

Source: Pharmacology & therapeutics [Pharmacol Ther] 2021 Sep; Vol. 225, pp. 107841. Date of Electronic Publication: 2021 Mar 23.

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

Journal Info: Publisher: Pergamon Press Country of Publication: England NLM ID: 7905840 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-016X (Electronic) Linking ISSN: 01637258 NLM ISO Abbreviation: Pharmacol Ther Subsets: MEDLINE

Xpg limits the expansion of haematopoietic stem and progenitor cells after ionising radiation.

Authors: Avila AI Illing A Becker F et al.

Source: Nucleic acids research [Nucleic Acids Res] 2016 Jul 27; Vol. 44 (13), pp. 6252-61. Date of Electronic Publication: 2016 May 02.

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-Electronic Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Left-right asymmetry in the light of TOR: An update on what we know so far.

Authors: Casar Tena T Burkhalter MD Philipp M

Source: Biology of the cell [Biol Cell] 2015 Sep; Vol. 107 (9), pp. 306-18. Date of Electronic Publication: 2015 Jun 11.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8108529 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1768-322X (Electronic) Linking ISSN: 02484900 NLM ISO Abbreviation: Biol Cell Subsets: MEDLINE

Author Correction: Puma and p21 represent cooperating checkpoints limiting self-renewal and chromosomal instability of somatic stem cells in response to telomere dysfunction.

Authors: Sperka T Song Z Morita Y et al.

Source: Nature cell biology [Nat Cell Biol] 2021 Mar; Vol. 23 (3), pp. 292.

Publication Type: Published Erratum

Journal Info: Publisher: Macmillan Magazines Ltd Country of Publication: England NLM ID: 100890575 Publication Model: Print Cited Medium: Internet ISSN: 1476-4679 (Electronic) Linking ISSN: 14657392 NLM ISO Abbreviation: Nat Cell Biol Subsets: MEDLINE; PubMed not MEDLINE

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.

Authors: Lessel D Vaz B Halder S et al.

Source: Nature genetics [Nat Genet] 2014 Nov; Vol. 46 (11), pp. 1239-44. Date of Electronic Publication: 2014 Sep 28.

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

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Glucose substitution prolongs maintenance of energy homeostasis and lifespan of telomere dysfunctional mice.

Authors: Missios P Zhou Y Guachalla LM et al.

Source: Nature communications [Nat Commun] 2014 Sep 18; Vol. 5, pp. 4924. Date of Electronic Publication: 2014 Sep 18.

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