Latest publications

Publication of various scientific studies

October 07 - 2019

Increasing knowledge in IGF1R defects: lessons from 35 new patients (Équipe Netchine)

J Med Genet. 2019 Background : The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a...
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September 24 - 2019

Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders (Équipe Housset / Fève)

Liver Int. 2019 Background and aims : The ABCC2 gene is implicated in Dubin-Johnson syndrome (DJS), a rare autosomal recessive liver disorder. The primary aim of this study was to determine...
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August 02 - 2019

Baseline microbiota composition modulates antibiotic-mediated effects on the gut microbiota and host (Équipe Seksik/Sokol)

Microbiome. 2019;7(1):111 Background : Normal mammalian development and homeostasis are dependent upon the gut microbiota. Antibiotics, essential for the treatment and prophylaxis of...
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June 27 - 2019

A mutation inactivating the distal SF1 binding site on the human anti-Mullerian hormone promoter causes persistent Mullerian duct syndrome (Équipe Fève)

Hum Mol Genet. 2019;28(19):3211-8 The persistent Mullerian duct syndrome (PMDS) is a 46,XY disorder of sexual development characterized by the persistence of Mullerian duct derivatives,...
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June 15 - 2019

Sleep disordered breathing in Silver−Russell syndrome patients: A new outcome (Équipe Netchine)

Sleep Med. 2019;on line Objective ; Imprinting disorders (ID), such as Prader−Willi syndrome (PWS), are associated with sleep-disordered breathing (SDB). No data are available for...
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May 01 - 2019

Impact of HIV/simian immunodeficiency virus infection and viral proteins on adipose tissue fibrosis and adipogenesis (Équipe Fève)

AIDS. 2019;33(6):953-64 Objective : HIV-infected patients receiving antiretroviral treatment (ART) often present adipose tissue accumulation and/or redistribution. adipose tissue has been...
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April 30 - 2019

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion (Équipe Netchine)

Front Endocrinol (Lausanne). 2019;10:263 We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double...
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April 30 - 2019

Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models (Équipe Housset)

Sci Rep. 2019;9(1):6653 Adenosine triphosphate binding cassette transporter, subfamily B member 4 (ABCB4) is the transporter of phosphatidylcholine at the canalicular membrane of...
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April 19 - 2019

Fungi participate in the dysbiosis of gut microbiota in patients with primary sclerosing cholangitis (Équipe Housset & Seksik-Sokol)

Gut. 2019 Objective : Patients with primary sclerosing cholangitis (PSC) were previously shown to display a bacterial gut dysbiosis but fungal microbiota has never been examined in these...
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April 15 - 2019

Ci-hox12 tail gradient precedes and participates in the control of the apoptotic-dependent tail regression during Ciona larva metamorphosis (Équipe Prunier)

Dev Biol. 2019;448(2):237-46 At the onset of the Ciona intestinalis metamorphosis, the first event is tail regression characterized, by a contraction, an apoptotic wave and Primordial Germ...
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Kourilsky Building
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France

Sorbonne Université Medicine
Saint-Antoine Site
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France

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