Search Results - "Zschocke J"

TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescence.

Authors: Kahlhofer J Marchet N Zubak K et al.

Source: The EMBO journal [EMBO J] 2025 Dec; Vol. 44 (23), pp. 7119-7153. Date of Electronic Publication: 2025 Oct 20.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.

Authors: McCrary JM Van Valckenborgh E Horgan D et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 704-714. Date of Electronic Publication: 2026 Feb 13.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

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Germline Genetic Testing in Breast and Gynecologic Cancers: Evaluating Age at Diagnosis as a Determinant.

Authors: Papadopoulou, Eirini Tsaousis, Georgios N. Alevizou, Romina et al.

Source: Cancers. May2026, Vol. 18 Issue 10, p1541. 23p.

Retrospective identification of the first cord blood-transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background.

Authors: Fink FM Höpfl R Witsch-Baumgartner M et al.

Source: Frontiers in immunology [Front Immunol] 2024 Jul 24; Vol. 15, pp. 1430938. Date of Electronic Publication: 2024 Jul 24 (Print Publication: 2024).

Publication Type: Journal Article; Case Reports; Review

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries.

Authors: Taxer K Wimmer K Wadt K et al.

Corporate Authors: Taxer K Wimmer K Wadt K et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Mar 03. Date of Electronic Publication: 2026 Mar 03.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.

Authors: Lotnik, Ekaterina E. Chukhrova, Alena L. Ryadninskaya, Nina V. et al.

Source: International Journal of Molecular Sciences. Jun2026, Vol. 27 Issue 12, p5597. 25p.

Identification of Pathogenic Variants in CYP4F22 , FLG , ALOX12B , and NIPAL4 in a Case Series of Inherited Ichthyosis.

Authors: Sattar, Malali Abdul Zaib, Amna Aurang Abbasi, Huda et al.

Source: International Journal of Molecular Sciences. May2026, Vol. 27 Issue 10, p4639. 12p.

Patients with congenital ichthyosis show differential activation of IL-23/Th17 pathway among various disease subtypes - A single-centre experience.

Authors: Kumar, Anoop Mahajan, Rahul Srivastava, Niharika et al.

Source: Indian Journal of Dermatology, Venereology & Leprology. May/Jun2026, Vol. 92 Issue 3, p1-9. 9p.

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The Impact of Ethnic and Communication Barriers on Fatal Metabolic Emergent Management of Traumatic Injury: A Case Report.

Authors: Furuta, Yutaka Tinker, Rory J. Grochowsky, Angela R. et al.

Source: Reports (MDPI AG). Dec2025, Vol. 8 Issue 4, p201. 6p.

Volume Author index.

Source: FEBS Journal. Dec2006, Vol. 273 Issue 24, p5737-5749. 13p.

Examination of anterior cruciate ligament injuries and genetic relationship: A systematic study.

Authors: Kahya, Sedat Kurhan, Cihad Onur

Source: Journal of Back & Musculoskeletal Rehabilitation. Jul2026, Vol. 39 Issue 4, p1234-1245.

Toxoplasma gondii infection of neurons alters the production and content of extracellular vesicles directing astrocyte phenotype and contributing to the loss of GLT-1 in the infected brain.

Authors: Tabaie, Emily Z. Gao, Ziting Kachour, Nala et al.

Source: PLoS Pathogens. 6/16/2025, Vol. 21 Issue 6, p1-31. 31p.

Influence of Accelerometer Calibration on the Estimation of Objectively Measured Physical Activity: The Tromsø Study.

Authors: Weitz, Marc Morseth, Bente Hopstock, Laila A. et al.

Source: Journal for the Measurement of Physical Behaviour. Mar2024, Vol. 7 Issue 1, p1-5.

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG.

Authors: Al-Shahrani, Hamdan Szabó, Evelin Staccone, Caroline et al.

Source: Biomolecules (2218-273X). Mar2026, Vol. 16 Issue 3, p418. 13p.

The Genetic Architecture of Sudden Cardiac Death: A State-of-the-Art Review.

Authors: Montuoro, Sabrina Monda, Emanuele Diana, Gaetano et al.

Source: Cardiogenetics. Mar2026, Vol. 16 Issue 1, p6. 22p.

Evaluation of GlcNAc-Configured Glycomimetics as Pharmacological Chaperones of NAGLU for the Treatment of Mucopolysaccharidosis IIIB.

Authors: Ballout, Nissrine Désiré, Jérôme Espejo-Mojica, Angela Johana et al.

Source: Biomolecules (2218-273X). Feb2026, Vol. 16 Issue 2, p313. 20p.

Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience.

Authors: Deudero, Aida Lasheras, Esther Ventura, Roser et al.

Source: Journal of Clinical Medicine. Jan2026, Vol. 15 Issue 1, p81. 19p.

Sphingolipidoses and Retinal Involvement: A Comprehensive Review.

Authors: Carrozzi, Chiara Fumi, Daniele Fasciolo, Davide et al.

Source: Applied Sciences (2076-3417); Mar2025, Vol. 15 Issue 5, p2863, 31p