Výsledky vyhledávání - "Sanaa Eddiry"

Akademický článek

Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre

Autor: Coline Rouleau, Margaux Malorie, Corinne Collet, Valérie Porquet-Bordes, Isabelle Gennero, Sanaa Eddiry, Michel Laroche, Jean Pierre Salles, Guillaume Couture, Thomas Edouard

Publikováno v: Bone Reports, Vol 16, Iss , Pp 101176- (2022)

Aim: To describe the presenting features, bone characteristics and molecular genetics in a large monocentric cohort of children and young adults with idiopathic primary osteoporosis. Methods: Sixty-six patients (19 children, 47 adults; 28 males, 38 f

Externí odkaz: https://doaj.org/article/da53931ce1f04fc39360489f39780b7d

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Akademický článek

Ghrelin uses the GHS-R1a/Gi/cAMP pathway and induces differentiation only in mature osteoblasts. This ghrelin pathway is impaired in AIS patients

Autor: Ronan Barre, Nicolas Beton, Aurélie Batut, Frank Accabled, Jerome Sales de Gauzy, Françoise Auriol, Sanaa Eddiry, Maithe Tauber, Sara Laurencin, Jean Pierre Salles, Isabelle Gennero

Publikováno v: Biochemistry and Biophysics Reports, Vol 24, Iss , Pp 100782- (2020)

We have examined the Acylated Ghrelin (AG)/Gi pathway in different human osteoblastic cell lines. We have found that: 1) AG induces differentiation/mineralization only in mature osteoblasts; 2) the expression of GHS-R1a increases up to the mature cel

Externí odkaz: https://doaj.org/article/6ea7d449ef3444328547430fe9d5b148

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SNORD116 and growth hormone therapy impact IGFBP7 in Prader–Willi syndrome

Autor: Lisa Cole Burnett, Françoise Conte Auriol, Eric Bieth, Jean Pierre Salles, Juliette Salles, Maithé Tauber, Gwenaelle Diene, Catherine Molinas, Rudolph L. Leibel, Boris V. Skryabin, Isabelle Gennero, Timofey S. Rozhdestvensky, Sanaa Eddiry

Publikováno v: Genetics in Medicine
Genetics in Medicine, 2021, 23 (9), pp.1664-1672. ⟨10.1038/s41436-021-01185-y⟩

International audience; Purpose: Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction due to deficiency of imprinted genes located on the 15q11-q13 chromosome. Among them, the SNORD116 gene appears critical for t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e0080d05680200cd3deb6cb1061f247
http://europepmc.org/articles/PMC8460435

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X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study

Autor: Louisa Bloudeau, Agnès Linglart, Sacha Flammier, Aurélie Portefaix, Aurélia Bertholet-Thomas, Sanaa Eddiry, Anna Barosi, Jean-Pierre Salles, Valérie Porquet-Bordes, Anya Rothenbuhler, Christelle Roger, Justine Bacchetta

Publikováno v: Pediatric nephrology (Berlin, Germany).

The underlying mechanisms of obesity in X-linked hypophosphatemia (XLH) are not known. We aimed to evaluate whether FGF21, an endocrine FGF involved in the regulation of carbohydrate-lipid metabolism, could be involved.We performed a prospective mult

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfbc0937d4254c580cad68cace311c30
https://pubmed.ncbi.nlm.nih.gov/35758999

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Patients with PWS and related syndromes display differentially methylated regions involved in neurodevelopmental and nutritional trajectory

Autor: Catherine Molinas, Maithé Tauber, Jean-Pierre Salles, Juliette Salles, Emmanuelle Lacassagne, Sanaa Eddiry, Nicolas Franchitto, Eric Bieth, Virginie Laurier

Publikováno v: Clinical Epigenetics
Clinical Epigenetics, 2021, 13 (1), pp.159. ⟨10.1186/s13148-021-01143-0⟩

Background Prader–Willi syndrome is a rare genetic neurodevelopmental disorder caused by a paternal deficiency of maternally imprinted gene expression located in the chromosome 15q11–q13 region. Previous studies have demonstrated that several cla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd2cfcaf8cc204afdf227aa93c75597c
http://europepmc.org/articles/PMC8361855

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Ghrelin uses the GHS-R1a/Gi/cAMP pathway and induces differentiation only in mature osteoblasts. This ghrelin pathway is impaired in AIS patients

Autor: Jérôme Sales de Gauzy, Nicolas Beton, Aurélie Batut, Frank Accabled, Isabelle Gennero, Jean Pierre Salles, Françoise Conte Auriol, Ronan Barre, Sara Laurencin, Maithé Tauber, Sanaa Eddiry

Publikováno v: Biochemistry and Biophysics Reports
Biochemistry and Biophysics Reports, 2020, 24, pp.100782-. ⟨10.1016/j.bbrep.2020.100782⟩
Biochemistry and Biophysics Reports, Vol 24, Iss, Pp 100782-(2020)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c72d04e8f69ee3f16ee60115d7527df0
http://europepmc.org/articles/PMC7494670

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What can we learn from PWS and SNORD116 genes about the pathophysiology of addictive disorders?

Autor: Maithé Tauber, Nicolas Franchitto, Emmanuelle Lacassagne, Jean-Pierre Salles, Juliette Salles, Sanaa Eddiry

Publikováno v: Molecular Psychiatry
Molecular Psychiatry, Nature Publishing Group, 2021, 26 (1), pp.51-59. ⟨10.1038/s41380-020-00917-x⟩

International audience; Addictive disorders have been much investigated and many studies have underlined the role of environmental factors such as social interaction in the vulnerability to and maintenance of addictive behaviors. Research on addictio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af548654b95caf1a195c05d7abac37c6
https://pubmed.ncbi.nlm.nih.gov/33082508

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Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

Publikováno v: Journal of Clinical Investigation. 127:293-305

Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd02a2e8871f3256c0c4f50e627141ea
https://doi.org/10.1172/jci88648

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Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS

Autor: Sanaa Eddiry, Maithé Tauber, Daniel Paull, Brynn Levy, Carlos R. Sulsona, Jean Pierre Salles, Dieter Egli, Rudolph L. Leibel, Charles A. LeDuc, Daniel J. Driscoll, Lisa Cole Burnett

Publikováno v: Stem Cell Res

Prader-Willi syndrome (PWS) is a syndromic obesity caused by loss of paternal gene expression in an imprinted interval on 15q11.2-q13. Induced pluripotent stem cells were generated from skin cells of three large deletion PWS patients and one unique m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6628ab687d0d539ce6fd4ef74b113c38

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Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

Autor: Eric Bieth, Dorothée Cailley, Catherine Molinas, Alexandre Buffet, V. Gaston, Maithé Tauber, Benoit Arveiler, Françoise Lorenzini, Françoise Conte Auriol, Caroline Rooryck, Jérôme Cavaillé, Jean Pierre Salles, Sanaa Eddiry

Publikováno v: European Journal of Human Genetics. 23:252-255

The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader–Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3683badd392ab69bd1b371bde4d79104
https://doi.org/10.1038/ejhg.2014.103

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