Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Catherine Le Stunff"'
Autor:
Catherine Le Stunff, Anne-Laure Castell, Nicolas Todd, Clémence Mille, Marie-Pierre Belot, Nathalie Frament, Sylvie Brailly-Tabard, Alexandra Benachi, Delphine Fradin, Pierre Bougnères
Publikováno v:
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-7 (2018)
Abstract Background There are many reasons to think that epigenetics is a key determinant of fetal growth variability across the normal population. Since IGF1 and INS genes are major determinants of intrauterine growth, we examined the methylation of
Externí odkaz:
https://doaj.org/article/257338b79613435aa3252790022c792e
Autor:
Virginie Grybek, Laetitia Aubry, Stéphanie Maupetit-Méhouas, Catherine Le Stunff, Cécile Denis, Mathilde Girard, Agnès Linglart, Caroline Silve
Publikováno v:
Stem Cell Reports, Vol 3, Iss 3, Pp 432-443 (2014)
Data from the literature indicate that genomic imprint marks are disturbed in human pluripotent stem cells (PSCs). GNAS is an imprinted locus that produces one biallelic (Gsα) and four monoallelic (NESP55, GNAS-AS1, XLsα, and A/B) transcripts due t
Externí odkaz:
https://doaj.org/article/21bcdda3726d4870a2602d07ae953614
Autor:
Catherine Le Stunff, Anne-Laure Castell, Nicolas Todd, Clémence Mille, Marie-Pierre Belot, Nathalie Frament, Sylvie Brailly-Tabard, Alexandra Benachi, Delphine Fradin, Pierre Bougnères
Publikováno v:
Clinical Epigenetics, Vol 10, Iss 1, Pp 1-1 (2018)
After publication of the original article [1], it came to the publishers’ attention that the below author’s corrections provided at the proofing stage had been misinterpreted.
Externí odkaz:
https://doaj.org/article/2dfa2a22977e4f15a1920e070efc62f5
Autor:
Xiaojian Shao, Catherine Le Stunff, Warren Cheung, Tony Kwan, Mark Lathrop, Tomi Pastinen, Pierre Bougnères
Background Recombinant human growth hormone (rhGH) has shown a great growth-promoting potential in children with idiopathic short stature (ISS). However, the response to rhGH differs across individuals, largely due to genetic and epigenetic heterogen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08b26cb50e0609c73d068966bcbd32d2
https://nrc-publications.canada.ca/eng/view/object/?id=7be8496c-ce81-435f-9b6b-28fe9dfdf3b5
https://nrc-publications.canada.ca/eng/view/object/?id=7be8496c-ce81-435f-9b6b-28fe9dfdf3b5
Autor:
Yasemin Özgür-Günes, Malha Chedik, Catherine Le Stunff, Claire-Maëlle Fovet, Pierre Bougnères
Publikováno v:
Human gene therapy. 33(17-18)
Adrenomyeloneuropathy (AMN) is a late-onset axonopathy of spinal cord tracts caused by mutations of the ABCD1 gene that encodes adrenoleukodystrophy protein (ALDP), a peroxisomal transporter of very long-chain fatty acids (VLCFA). Disturbed metabolic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8140bfb5db8cdfd8057a7a53a61841a
https://pubmed.ncbi.nlm.nih.gov/35166123
https://pubmed.ncbi.nlm.nih.gov/35166123
Autor:
Emmanuelle Motte, Juan de Dios Garcia-Diaz, Catherine Le Stunff, Claire Briet, Guiomar Perez de Nanclares, Nicolas Dumaz, Caroline Silve, Arrate Pereda
Publikováno v:
Human Molecular Genetics. 26:3883-3894
Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by mutations in the phosphodiesterase (PDE) 4D (PDE4D) gene. Several arguments suggest that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdeafe9e2d19d11fe84d62c81fad5b10
https://doi.org/10.1093/hmg/ddx271
https://doi.org/10.1093/hmg/ddx271
Publikováno v:
Journal of the Endocrine Society
Pseudohypoparathyroidism 1B (PHP1B) or inactivating PTH/PTHrp Signaling Disorder type 3 (iPPSD3), according to the new classification, presents mainly with hypocalcemia and hyperphosphatemia due to renal resistance towards parathyroid hormone. In add
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03a043258b60d65056136d62f458d4ad
http://europepmc.org/articles/PMC6552243
http://europepmc.org/articles/PMC6552243
Autor:
Eric Clauser, Pierre Bougnères, Emmanuelle Motte, Françoise Tilotta, Dominique Le Denmat, Catherine Le Stunff, Catherine Chaussain, Jérémy Sadoine, Claire Briet, Caroline Silve
Publikováno v:
Journal of Bone and Mineral Research. 32:333-346
In humans, activating mutations in the PRKAR1A gene cause acrodysostosis 1 (ACRDYS1). These mutations result in a reduction in PKA activation caused by an impaired ability of cAMP to dissociate mutant PRKAR1A from catalytic PKA subunits. Two striking
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d5a16e599a46e23fb6953107da891de
https://doi.org/10.1002/jbmr.2987
https://doi.org/10.1002/jbmr.2987
Autor:
Catherine Le Stunff, Eric Clauser, Alain Couvineau, Caroline Silve, Waed Abdel Khalek, Yara Rhayem, Jérôme Bertherat, Agnès Linglart, C. Auzan
Publikováno v:
Journal of Biological Chemistry. 290:27816-27828
The main target of cAMP is PKA, the main regulatory subunit of which (PRKAR1A) presents mutations in two genetic disorders: acrodysostosis and Carney complex. In addition to the initial recurrent mutation (R368X) of the PRKAR1A gene, several missense
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ba27303538e86f6fa9204845188592
https://doi.org/10.1074/jbc.m115.656553
https://doi.org/10.1074/jbc.m115.656553
Publikováno v:
Molecular and cellular endocrinology. 442
In acrodysostosis without hormone resistance, a disease caused by phosphodiesterase (PDE)-4D mutations, increased PDE activity leads to bone developmental defects but with normal renal responses to PTH. To identify potential mechanisms for these disp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd47cbf91122fa0d3d334c09f52a3478
https://pubmed.ncbi.nlm.nih.gov/27908835
https://pubmed.ncbi.nlm.nih.gov/27908835