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Johannes Zschocke
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First experiences with the introduction of genetic counselors in human genetic services in the German-speaking countries.
Heidemann S, Zschocke J, Schwaninger G
J Genet Couns, 11 Nov 2024
Cited by: 0 articles | PMID: 39528353
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TXNIP mediates LAT1/SLC7A5 endocytosis to reduce amino acid uptake in cells entering quiescence
Kahlhofer J, Marchet N, Seifert B, Zubak K, Hotze M, Egger A, Manzl C, Weyer Y, Weys S, Offterdinger M, Herzog S, Reiterer V, Kwiatkowski M, Wortmann SB, Nemati S, Mayr JA, Zschocke J, Radlinger B, Thedieck K, [...] Teis D
bioRxiv, 30 Oct 2024
Cited by: 0 articles | PPR: PPR933449
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Mitochondrial cardiolipin metabolism controlled by tafazzin enables ferroptosis
Wohlfarter Y, Hagenbuchner J, Horzum U, Oemer G, Winter A, Seifert M, Schwärzler J, Kokot J, Hernansanz Agustín P, Juric V, Garcia Suoza LF, Talasz H, Enríquez Domínguez JA, Farhan H, Adolph TE, Weiss G, Zschocke J, Keller MA
bioRxiv, 26 Oct 2024
Cited by: 0 articles | PPR: PPR931090
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Institut für Humangenetik der Medizinischen Universität Innsbruck feiert seine 60-jährige Geschichte und gibt Ausblicke in die Zukunft der Genomischen Medizin.
Mühlegger B, Zschocke J
Med Genet, 36(3):219-221, 06 Sep 2024
Cited by: 0 articles | PMID: 39257933
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Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency.
Kohlmaier B, Skok K, Lackner C, Haselrieder G, Müller T, Sailer S, Zschocke J, Keller MA, Knisely AS, Janecke AR
Int J Obes (Lond), 14 Sep 2024
Cited by: 0 articles | PMID: 39277655
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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.
Fink FM, Höpfl R, Witsch-Baumgartner M, Kropshofer G, Martin S, Fink V, Heeg M, Peters C, Zschocke J, Haas OA
Front Immunol, 15:1430938, 24 Jul 2024
Cited by: 0 articles | PMID: 39114664 | PMCID: PMC11303233
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Inflammatory bowel disease in STAT1 gain-of-function immunodeficiency treated with precision medicine.
Schwärzler J, Zollner A, Dolejsi T, Mayr L, Oberhuber G, Zschocke J, Sturm W, Tancevski I, Adolph TE, Tilg H
Gut, 73(8):1394-1396, 11 Jul 2024
Cited by: 0 articles | PMID: 37620121
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Stratification of Homologous Recombination Deficiency-Negative High-Grade Ovarian Cancer by the Type of Peritoneal Spread into Two Groups with Distinct Survival Outcomes.
Schnaiter S, Schamschula E, Laschtowiczka J, Fiegl H, Zschocke J, Zeimet A, Wimmer K, Reimer D
Cancers (Basel), 16(11):2129, 03 Jun 2024
Cited by: 0 articles | PMID: 38893248 | PMCID: PMC11171355
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Stratification of Homologous Recombination Deficiency-Negative High-Grade Ovarian Cancer by the Type of Peritoneal Spread into Two Groups with Distinct Survival Outcome
Schnaiter S, Schamschula E, Laschtowiczka J, Fiegl H, Zschocke J, Zeimet A, Wimmer K, Reimer D
Preprints.org, 12 Apr 2024
Cited by: 0 articles | PPR: PPR839381
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Sleep-stage dependence and co-existence of cardio-respiratory coordination and phase synchronization.
Ma YJX, Zschocke J, Glos M, Kluge M, Penzel T, Kantelhardt JW, Bartsch RP
Chaos, 34(4):043118, 01 Apr 2024
Cited by: 0 articles | PMID: 38572945
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Knock-out of dipeptidase CN2 in human proximal tubular cells disrupts dipeptide and amino acid homeostasis and para- and transcellular solute transport.
Pfeffer T, Krug SM, Kracke T, Schürfeld R, Colbatzky F, Kirschner P, Medert R, Freichel M, Schumacher D, Bartosova M, Zarogiannis SG, Muckenthaler MU, Altamura S, Pezer S, Volk N, Schwab C, Duensing S, Fleming T, Heidenreich E, [...] Peters V
Acta Physiol (Oxf), 240(4):e14126, 22 Mar 2024
Cited by: 0 articles | PMID: 38517248
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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, [...] Severino M
Brain, 146(12):5031-5043, 01 Dec 2023
Cited by: 2 articles | PMID: 37517035 | PMCID: PMC10690011
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Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.
Alakloby OM, Almuqarrab F, Zschocke J, Schmuth M, Abdulkareem A, Alnutaifi K, Borgio F, Gruber R, Hennies HC
BMC Med Genomics, 16(1):256, 23 Oct 2023
Cited by: 0 articles | PMID: 37872553 | PMCID: PMC10591457
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[Diagnosis and treatment of focal-segmental glomerulosclerosis-2023].
Gauckler P, Zitt E, Regele H, Eller K, Säemann MD, Lhotta K, Neumann I, Rudnicki M, Odler B, Kronbichler A, Zschocke J, Windpessl M
Wien Klin Wochenschr, 135(suppl 5):638-647, 01 Aug 2023
Cited by: 0 articles | PMID: 37728649 | PMCID: PMC10511576
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Risk and potential of ChatGPT in scientific publishing.
Peters V, Baumgartner M, Froese S, Morava E, Patterson M, Zschocke J, Rahman S
J Inherit Metab Dis, 46(6):1005-1006, 17 Aug 2023
Cited by: 1 article | PMID: 37534774
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Automatic sleep-stage classification of heart rate and actigraphy data using deep and transfer learning approaches.
Ma YJX, Zschocke J, Glos M, Kluge M, Penzel T, Kantelhardt JW, Bartsch RP
Comput Biol Med, 163:107193, 22 Jun 2023
Cited by: 1 article | PMID: 37421734
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Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL-C and LPA genetic scores.
Schwaninger G, Forer L, Ebenbichler C, Dieplinger H, Kronenberg F, Zschocke J, Witsch-Baumgartner M
Clin Genet, 104(3):334-343, 07 Jul 2023
Cited by: 2 articles | PMID: 37417318
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Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.
Angwin C, Zschocke J, Kammin T, Björck E, Bowen J, Brady AF, Burns H, Cummings C, Gardner R, Ghali N, Gröbner R, Harris J, Higgins M, Johnson D, Lepperdinger U, Milnes D, Pope FM, Sehra R, Kapferer-Seebacher I, [...] Van Dijk FS
Front Genet, 14:1136339, 31 May 2023
Cited by: 0 articles | PMID: 37323685 | PMCID: PMC10264792
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Guidelines in the JIMD: Evidence-based practice for inherited metabolic disease.
Rahman S, Patterson M, Peters V, Morava E, Zschocke J, Baumgartner M
J Inherit Metab Dis, 46(4):537-538, 08 May 2023
Cited by: 0 articles | PMID: 37157107
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Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.
Amberger A, Pertoll J, Traunfellner P, Kapferer-Seebacher I, Stoiber H, Klimaschewski L, Thielens N, Gaboriaud C, Zschocke J
Front Immunol, 14:1157421, 07 Mar 2023
Cited by: 2 articles | PMID: 36960056 | PMCID: PMC10028100
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Mendelian inheritance revisited: dominance and recessiveness in medical genetics.
Zschocke J, Byers PH, Wilkie AOM
Nat Rev Genet, 24(7):442-463, 20 Feb 2023
Cited by: 22 articles | PMID: 36806206
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Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.
Locher M, Jukic E, Vogi V, Keller MA, Kröll T, Schwendinger S, Oberhuber K, Verdorfer I, Mühlegger BE, Witsch-Baumgartner M, Nachbaur D, Willenbacher W, Gunsilius E, Wolf D, Zschocke J, Steiner N
Eur J Haematol, 110(3):296-304, 04 Dec 2022
Cited by: 4 articles | PMID: 36433728 | PMCID: PMC10107198
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Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Wohlfarter Y, Eidelpes R, Yu RD, Sailer S, Koch J, Karall D, Scholl-Bürgi S, Amberger A, Hillen HS, Zschocke J, Keller MA
Cell Mol Life Sci, 80(1):37, 11 Jan 2023
Cited by: 0 articles | PMID: 36627535 | PMCID: PMC9831950
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Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, [...] Santibanez-Koref M
Gastroenterology, 164(4):579-592.e8, 29 Dec 2022
Cited by: 12 articles | PMID: 36586540
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Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, [...] Kölker S
J Inherit Metab Dis, 46(3):482-519, 17 Nov 2022
Cited by: 18 articles | PMID: 36221165
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Search life-sciences literature (45,103,589 articles, preprints and more)

Suggested authors matching "AUTH:Zschocke J" with an ORCID

Search results

First experiences with the introduction of genetic counselors in human genetic services in the German-speaking countries.

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

Mitochondrial cardiolipin metabolism controlled by tafazzin enables ferroptosis

Institut für Humangenetik der Medizinischen Universität Innsbruck feiert seine 60-jährige Geschichte und gibt Ausblicke in die Zukunft der Genomischen Medizin.

Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency.

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.

Inflammatory bowel disease in STAT1 gain-of-function immunodeficiency treated with precision medicine.

Stratification of Homologous Recombination Deficiency-Negative High-Grade Ovarian Cancer by the Type of Peritoneal Spread into Two Groups with Distinct Survival Outcomes.

Stratification of Homologous Recombination Deficiency-Negative High-Grade Ovarian Cancer by the Type of Peritoneal Spread into Two Groups with Distinct Survival Outcome

Sleep-stage dependence and co-existence of cardio-respiratory coordination and phase synchronization.

Knock-out of dipeptidase CN2 in human proximal tubular cells disrupts dipeptide and amino acid homeostasis and para- and transcellular solute transport.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.

[Diagnosis and treatment of focal-segmental glomerulosclerosis-2023].

Risk and potential of ChatGPT in scientific publishing.

Automatic sleep-stage classification of heart rate and actigraphy data using deep and transfer learning approaches.

Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL-C and LPA genetic scores.

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.

Guidelines in the JIMD: Evidence-based practice for inherited metabolic disease.

Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.

Mendelian inheritance revisited: dominance and recessiveness in medical genetics.

Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.

Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

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