Detlev Schindler
Overview
Explore the profile of Detlev Schindler including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
125
Citations
4570
Followers
0
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Related Specialties
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Recent Articles
1.
Bousset K, Donega S, Ameziane N, Fleischhammer T, Ramachandran D, Poley-Gil M, et al.
J Clin Invest
. 2024 Dec;
135(3).
PMID: 39666384
This study identifies and characterizes a novel type of splicing mutation in RAD50 deficiency, a rare genetic disorder.
2.
Tomaszowski K, Roy S, Guerrero C, Shukla P, Keshvani C, Chen Y, et al.
Nat Commun
. 2024 Mar;
15(1):2214.
PMID: 38472265
No abstract available.
3.
Blaize J, Noori B, Hunter K, Henrikson K, Atoyan J, Ardito A, et al.
bioRxiv
. 2023 Apr;
PMID: 37066159
Fanconi anemia (FA) is a rare genetic disease characterized by heterogeneous congenital abnormalities and increased risk for bone marrow failure and cancer. FA is caused by mutation of any one...
4.
Moore C, Yalcindag S, Czeladko H, Ravindranathan R, Hanthi Y, Levy J, et al.
J Cell Biol
. 2023 Apr;
222(5).
PMID: 37036693
Replication fork reversal is an important mechanism to protect the stability of stalled forks and thereby preserve genomic integrity. While multiple enzymes have been identified that can remodel forks, their...
5.
Averdunk L, Huetzen M, Moreno-Andres D, Kalb R, McKee S, Hsieh T, et al.
Genet Med
. 2023 Apr;
25(7):100836.
PMID: 37013901
Purpose: Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of premature aging. RECQL4 and ANAPC1 are the 2 known disease...
6.
Tomaszowski K, Roy S, Guerrero C, Shukla P, Keshvani C, Chen Y, et al.
Nat Commun
. 2023 Mar;
14(1):1333.
PMID: 36906610
The prototypic cancer-predisposition disease Fanconi Anemia (FA) is identified by biallelic mutations in any one of twenty-three FANC genes. Puzzlingly, inactivation of one Fanc gene alone in mice fails to...
7.
Luzwick J, Dombi E, Boisvert R, Roy S, Park S, Kunnimalaiyaan S, et al.
Sci Adv
. 2021 Dec;
7(51):eabf9441.
PMID: 34910513
Mitochondrial DNA (mtDNA) instability activates cGAS-dependent innate immune signaling by unknown mechanisms. Here, we find that Fanconi anemia suppressor genes are acting in the mitochondria to protect mtDNA replication forks...
8.
Dutzmann C, Spix C, Popp I, Kaiser M, Erdmann F, Erlacher M, et al.
J Clin Oncol
. 2021 Oct;
40(1):32-39.
PMID: 34597127
Purpose: Fanconi anemia (FA) and ataxia-telangiectasia (AT) are rare inherited syndromes characterized by abnormal DNA damage response and caused by pathogenic variants in key DNA repair proteins that are also...
9.
Behrens Y, Gohring G, Bawadi R, Coktu S, Reimer C, Hoffmann B, et al.
Haematologica
. 2021 Jul;
106(11):3000-3003.
PMID: 34196171
No abstract available.
10.
Huson S, Staab T, Pereira M, Ward H, Paredes R, Evans D, et al.
Fam Cancer
. 2021 Jan;
21(1):91.
PMID: 33403474
No abstract available.