Aurelie Hummel
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Explore the profile of Aurelie Hummel including associated specialties, affiliations and a list of published articles.
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64
Citations
969
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Recent Articles
1.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer J, et al.
Am J Kidney Dis
. 2024 Dec;
PMID: 39732359
Rationale & Objective: Monoallelic predicted loss-of-function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study enhanced the characterization of this...
2.
Yamaguchi J, Isnard P, Robil N, De La Grange P, Hoguin C, Schmitt A, et al.
J Clin Invest
. 2024 Jun;
134(15).
PMID: 38842935
Proliferative glomerulonephritis is a severe condition that often leads to kidney failure. There is a significant lack of effective treatment for these disorders. Here, following the identification of a somatic...
3.
dIzarny-Gargas T, Isnard P, Boudhabhay I, Buob D, Moktefi A, Linster C, et al.
Kidney Int
. 2023 Sep;
104(6):1206-1218.
PMID: 37769965
A high prevalence of chronic kidney disease (CKD) occurs in patients with myeloproliferative neoplasms (MPN). However, MPN-related glomerulopathy (MPN-RG) may not account for the entirety of CKD risk in this...
4.
Boisson M, Arrondel C, Cagnard N, Moriniere V, Arkoub Z, Saei H, et al.
Kidney Int
. 2023 May;
104(2):367-377.
PMID: 37230224
X-linked Alport syndrome (XLAS) is an inherited kidney disease caused exclusively by pathogenic variants in the COL4A5 gene. In 10-20% of cases, DNA sequencing of COL4A5 exons or flanking regions...
5.
Gros C, Fogel O, Boudhabhay I, Debiais C, Duong van Huyen J, Hummel A, et al.
J Scleroderma Relat Disord
. 2023 Feb;
8(1):NP6-NP10.
PMID: 36743813
We report the case of a patient followed for a mixed connective tissue disease with signs of systemic sclerosis and systemic lupus, who presented an acute renal failure with severe...
6.
Gomez-Conde S, Dunand O, Hummel A, Moriniere V, Gauthier M, Mesnard L, et al.
Clin Genet
. 2022 Sep;
103(1):114-118.
PMID: 36089563
Integrin Subunit Alpha 8 gene (ITGA8) encodes an integrin chain that is known to be critical in the early stage of the kidney development. Bi-allelic pathogenic variants in ITGA8 are...
7.
Hummel A, Oniszczuk J, Kervella D, Charbit M, Guerrot D, Testa A, et al.
Clin Kidney J
. 2022 Aug;
15(8):1574-1582.
PMID: 35979142
Background: Several cases of idiopathic nephrotic syndrome (INS) relapse following the administration of coronavirus disease 2019 (COVID-19) vaccines have recently been reported, raising questions about the potential relationship between the...
8.
Drovandi S, Lugani F, Boyer O, La Porta E, Giordano P, Hummel A, et al.
J Clin Med
. 2022 Aug;
11(15).
PMID: 35956038
Multicentric carpo-tarsal osteolysis (MCTO) is a rare osteolysis syndrome mainly involving carpal and tarsal bones usually presenting in early childhood. MCTO has autosomal dominant inheritance with heterozygous mutation in the...
9.
Jourde-Chiche N, Costedoat-Chalumeau N, Baumstarck K, Loundou A, Bouillet L, Burtey S, et al.
Ann Rheum Dis
. 2022 Jun;
81(10):1420-1427.
PMID: 35725295
Objectives: Lupus nephritis (LN) is a frequent complication of systemic lupus erythematosus (SLE). Severe (proliferative) forms of LN are treated with induction immunosuppressive therapy (IST), followed by maintenance IST, to...
10.
Servais A, Boisgontier J, Saitovitch A, Hummel A, Boddaert N
Cells
. 2022 Feb;
11(4).
PMID: 35203331
Despite improvement in the specific treatment, clinical and anatomo-functional central nervous system (CNS) abnormalities of various severities are still observed in cystinosis patients. Patients who develop CNS complications today have...