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Showing 25 to 36 of 68 entries
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Apolipoprotein A1: A new serum marker correlated to JAK2 V617F proportion at diagnosis in patients with polycythemia vera.

Proteomics. Clinical applications

Mossuz P, Bouamrani A, Brugière S, Arlotto M, Hermouet S, Lippert E, Laporte F, Girodon F, Dobo I, Vincent P, Garin J, Cahn JY, Berger F.
PMID: 21136658
Proteomics Clin Appl. 2007 Dec;1(12):1605-12. doi: 10.1002/prca.200601051.

Polycythemia vera (PV) is a myeloproliferative disorder (MPD) characterized by an acquired gain-of-function mutation of the JAK2 protein (JAK2 V617F). Allele-specific quantitative PCR has showed a JAK2 V617F dosage effect on haematological and clinical parameters of PV at diagnosis,...

In vivo spectroscopy and NMR metabolite fingerprinting approaches to connect the dynamics of photosynthetic and metabolic phenotypes in resurrection plant Haberlea rhodopensis during desiccation and recovery.

Frontiers in plant science

Mladenov P, Finazzi G, Bligny R, Moyankova D, Zasheva D, Boisson AM, Brugière S, Krasteva V, Alipieva K, Simova S, Tchorbadjieva M, Goltsev V, Ferro M, Rolland N, Djilianov D.
PMID: 26257765
Front Plant Sci. 2015 Jul 21;6:564. doi: 10.3389/fpls.2015.00564. eCollection 2015.

The resurrection plant Haberlea rhodopensis was used to study dynamics of drought response of photosynthetic machinery parallel with changes in primary metabolism. A relation between leaf water content and photosynthetic performance was established, enabling us to perform a non-destructive...

Higher methylation of the IGF1 P2 promoter is associated with idiopathic short stature.

Clinical endocrinology

Ouni M, Castell AL, Rothenbuhler A, Linglart A, Bougnères P.
PMID: 26218795
Clin Endocrinol (Oxf). 2016 Feb;84(2):216-221. doi: 10.1111/cen.12867. Epub 2015 Sep 03.

BACKGROUND: Idiopathic short stature (ISS) has a strong familial component, but genetics explains only part of it. Indeed, environmental factors act on human growth either directly or through epigenetic factors that remain to be determined. Given the importance of...

Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).

Familial cancer

Guerrini-Rousseau L, Smith MJ, Kratz CP, Doergeloh B, Hirsch S, Hopman SMJ, Jorgensen M, Kuhlen M, Michaeli O, Milde T, Ridola V, Russo A, Salvador H, Waespe N, Claret B, Brugieres L, Evans DG.
PMID: 33860896
Fam Cancer. 2021 Oct;20(4):317-325. doi: 10.1007/s10689-021-00247-z. Epub 2021 Apr 16.

Gorlin syndrome (MIM 109,400), a cancer predisposition syndrome related to a constitutional pathogenic variation (PV) of a gene in the Sonic Hedgehog pathway (PTCH1 or SUFU), is associated with a broad spectrum of benign and malignant tumors. Basal cell...

Letter to the Editor from Bougnères: "Reproductive Hormone Concentrations And Associated Anatomical Responses: Does Soy Formula Affect Minipuberty In Boys ?.

The Journal of clinical endocrinology and metabolism

Bougnères P.
PMID: 34614157
J Clin Endocrinol Metab. 2021 Oct 06; doi: 10.1210/clinem/dgab716. Epub 2021 Oct 06.

No abstract available.

Tyrosine phosphatases regulate resistance to ALK inhibitors in ALK+ anaplastic large cell lymphoma.

Blood

Karaca Atabay E, Mecca C, Wang Q, Ambrogio C, Mota I, Prokoph N, Mura G, Martinengo C, Patrucco E, Leonardi G, Hossa J, Pich A, Mologni L, Gambacorti-Passerini CB, Brugieres L, Geoerger B, Turner SD, Voena C, Cheong TC, Chiarle R.
PMID: 34657149
Blood. 2021 Oct 17; doi: 10.1182/blood.2020008136. Epub 2021 Oct 17.

Anaplastic large cell lymphomas (ALCLs) frequently carry oncogenic fusions involving the anaplastic lymphoma kinase (ALK) gene. Targeting ALK using tyrosine kinase inhibitors (TKIs) is a therapeutic option in cases relapsed after chemotherapy, but TKI resistance may develop. By applying...

Blood Lactate During Double-Lung Transplantation: A Predictor of Grade-3 Primary Graft Dysfunction.

Journal of cardiothoracic and vascular anesthesia

Fessler J, Vallée A, Guirimand A, Sage E, Glorion M, Roux A, Brugière O, Parquin F, Zuber B, Cerf C, Vasse M, Pascreau T, Fischler M, Ichai C, Guen ML.
PMID: 34879926
J Cardiothorac Vasc Anesth. 2021 Nov 03; doi: 10.1053/j.jvca.2021.10.043. Epub 2021 Nov 03.

OBJECTIVE: Many prognostic factors of grade-3 primary graft dysfunction at postoperative day 3 (PGD3-T72) have been reported, but intraoperative blood lactate level has not been studied. The present retrospective study was done to test the hypothesis that intraoperative blood...

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.

Journal of medical genetics

Aronson M, Colas C, Shuen A, Hampel H, Foulkes WD, Baris Feldman H, Goldberg Y, Muleris M, Wolfe Schneider K, McGee RB, Jasperson K, Rangaswami A, Brugieres L, Tabori U.
PMID: 33622763
J Med Genet. 2021 Feb 23; doi: 10.1136/jmedgenet-2020-107627. Epub 2021 Feb 23.

BACKGROUND: Constitutional mismatch repair deficiency syndrome (CMMRD) is the most aggressive cancer predisposition syndrome associated with multiorgan cancers, often presenting in childhood. There is variability in age and presentation of cancers and benign manifestations mimicking neurofibromatosis type 1. Genetic...

Lung transplantation for COVID-19-associated acute respiratory distress syndrome: The first French patient.

Respiratory medicine and research

Glorion M, De Wolf J, Zuber B, Cassiano F, Preau S, Brun AL, Cohen J, Tachon G, Neuville M, Brugière O, Picard C, Beaumont-Azuar L, Fessler J, Jacqmin S, Pricopi C, Chapelier A, Cuquemelle E, Parquin F, Magnan A, Roux A, Le Guen M, Sage E, Cerf C.
PMID: 34433119
Respir Med Res. 2021 Nov;80:100851. doi: 10.1016/j.resmer.2021.100851. Epub 2021 Aug 08.

No abstract available.

Hypomethylation of the promoter of the catalytic subunit of protein phosphatase 2A in response to hyperglycemia.

Physiological reports

Tros F, Meirhaeghe A, Hadjadj S, Amouyel P, Bougnères P, Fradin D.
PMID: 25347859
Physiol Rep. 2014 Jul 16;2(7). doi: 10.14814/phy2.12076.

In order to identify epigenetic mechanisms through which hyperglycemia can affect gene expression durably in β cells, we screened DNA methylation changes induced by high glucose concentrations (25 mmol/L) in the BTC3 murine cell line, using an epigenome-wide approach....

Correction of a knock-in mouse model of acrodysostosis with gene therapy using a rAAV9-CAG-human PRKAR1A vector.

Gene therapy

Özgür-Günes Y, Le Stunff C, Chedik M, Belot MP, Becker PH, Blouin V, Bougnères P.
PMID: 34599290
Gene Ther. 2021 Oct 01; doi: 10.1038/s41434-021-00286-2. Epub 2021 Oct 01.

Acrodysostosis is a rare skeletal dysplasia caused by loss-of-function mutations in the regulatory subunit of protein kinase A (PRKAR1A). In a knock-in mouse model (PRKAR1A

Surveillance of intestinal colonization and of infection by vancomycin-resistant enterococci in hospitalized cancer patients.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases

Moulin F, Dumontier S, Saulnier P, Chachaty E, Loubeyre C, Brugières L, Andremont A.
PMID: 11866843
Clin Microbiol Infect. 1996 Feb;2(3):192-201. doi: 10.1016/s1198-743x(14)65142-9.

OBJECTIVE: To study epidemiologic features of and risk factors for intestinal colonization and infection by vancomycin-resistant enterococci (VRE) in cancer patients. METHODS: During a 41-month period, over 7600 fecal samples and all samples from sterile sites from hospitalized cancer...

Showing 25 to 36 of 68 entries