Alexander P A Stegmann
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Explore the profile of Alexander P A Stegmann including associated specialties, affiliations and a list of published articles.
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68
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1749
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Recent Articles
1.
Blackburn P, Ebstein F, Hsieh T, Motta M, Radio F, Herkert J, et al.
Ann Neurol
. 2024 Sep;
PMID: 39301775
Objective: De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed...
2.
Deb W, Rosenfelt C, Vignard V, Papendorf J, Moller S, Wendlandt M, et al.
Am J Hum Genet
. 2024 Jun;
111(7):1352-1369.
PMID: 38866022
Primary proteasomopathies have recently emerged as a new class of rare early-onset neurodevelopmental disorders (NDDs) caused by pathogenic variants in the PSMB1, PSMC1, PSMC3, or PSMD12 proteasome genes. Proteasomes are...
3.
Pan X, Tao A, Lu S, Ma M, Hannan S, Slaugh R, et al.
Am J Hum Genet
. 2024 Mar;
111(4):742-760.
PMID: 38479391
FRY-like transcription coactivator (FRYL) belongs to a Furry protein family that is evolutionarily conserved from yeast to humans. The functions of FRYL in mammals are largely unknown, and variants in...
4.
de Boer E, Ockeloen C, Kampen R, Hampstead J, Dingemans A, Rots D, et al.
Genet Med
. 2023 Sep;
25(11):100962.
PMID: 37658852
No abstract available.
5.
Rots D, Jakub T, Keung C, Jackson A, Banka S, Pfundt R, et al.
Am J Hum Genet
. 2023 May;
110(6):963-978.
PMID: 37196654
De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but because every monogenic NDD is different and usually extremely rare, it remains a major challenge to understand the...
6.
Reijnders M, Seibt A, Brugger M, Lamers I, Ott T, Klaas O, et al.
Genet Med
. 2023 Apr;
25(7):100838.
PMID: 37057673
Purpose: Mechanistic target of rapamycin (mTOR) complex 1 (mTORC1) regulates cell growth in response to nutritional status. Central to the mTORC1 function is the Rag-GTPase heterodimer. One component of the...
7.
Ravindran E, Arashiki N, Becker L, Takizawa K, Levy J, Rambaud T, et al.
Elife
. 2022 Dec;
11.
PMID: 36511780
Collapsin response mediator proteins (CRMPs) are key for brain development and function. Here, we link CRMP1 to a neurodevelopmental disorder. We report heterozygous de novo variants in the gene in...
8.
Cali E, Suri M, Scala M, Ferla M, Alavi S, Faqeih E, et al.
Genet Med
. 2022 Nov;
25(1):135-142.
PMID: 36399134
Purpose: Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyzes the methylation of arginine residues on several protein substrates. Biallelic pathogenic PRMT7 variants have...
9.
Grange L, Reynolds J, Ullah F, Isidor B, Shearer R, Latypova X, et al.
Nat Commun
. 2022 Nov;
13(1):6664.
PMID: 36333305
Embryonic development is dictated by tight regulation of DNA replication, cell division and differentiation. Mutations in DNA repair and replication genes disrupt this equilibrium, giving rise to neurodevelopmental disease characterized...
10.
Leitao E, Schroder C, Parenti I, Dalle C, Rastetter A, Kuhnel T, et al.
Nat Commun
. 2022 Nov;
13(1):6570.
PMID: 36323681
Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion...