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Tarver Joanne Vitoratou Silia Mastroianni Mathilde Heaney Natalie Bennett Eleanor Gibbons Felicity Fiori Federico Absoud Michael Ramasubramanian Lakshmi Simonoff Emily Santosh Paramala 《Journal of autism and developmental disorders》2021,51(8):2812-2828
Journal of Autism and Developmental Disorders - Although 70% of autistic children and young people meet criteria for co-occurring psychiatric conditions, there are few screening measures... 相似文献
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Ravel Jean-Marie Benkirane Mehdi Calmels Nadège Marelli Cecilia Ory-Magne Fabienne Ewenczyk Claire Halleb Yosra Tison François Lecocq Claire Pische Guillaume Casenave Philippe Chaussenot Annabelle Frismand Solène Tyvaert Louise Larrieu Lise Pointaux Morgane Drouot Nathalie Bossenmeyer-Pourié Carine Oussalah Abderrahim Guéant Jean-Louis Leheup Bruno Bonnet Céline Anheim Mathieu Tranchant Christine Lambert Laëtitia Chelly Jamel Koenig Michel Renaud Mathilde 《Journal of neurology》2021,268(5):1927-1937
Journal of Neurology - STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1... 相似文献
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Martin H. Berryer Fadi F. Hamdan Laura L. Klitten Rikke S. Møller Lionel Carmant Jeremy Schwartzentruber Lysanne Patry Sylvia Dobrzeniecka Daniel Rochefort Mathilde Neugnot‐Cerioli Jean‐Claude Lacaille Zhiyv Niu Christine M. Eng Yaping Yang Sylvain Palardy Céline Belhumeur Guy A. Rouleau Niels Tommerup LaDonna Immken Miriam H. Beauchamp Gayle Simpson Patel Jacek Majewski Mark A. Tarnopolsky Klaus Scheffzek Helle Hjalgrim Jacques L. Michaud Graziella Di Cristo 《Human mutation》2013,34(2):385-394
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP‐activating protein, cause nonsyndromic intellectual disability (NSID). All disease‐causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an association between this type of mutations and NSID. Here, we report the identification of the first pathogenic missense mutations (c.1084T>C [p.W362R], c.1685C>T [p.P562L]) and three novel truncating mutations (c.283dupC [p.H95PfsX5], c.2212_2213del [p.S738X], and (c.2184del [p.N729TfsX31]) in SYNGAP1 in patients with NSID. A subset of these patients also showed ataxia, autism, and a specific form of generalized epilepsy that can be refractory to treatment. All of these mutations occurred de novo, except c.283dupC, which was inherited from a father who is a mosaic. Biolistic transfection of wild‐type SYNGAP1 in pyramidal cells from cortical organotypic cultures significantly reduced activity‐dependent phosphorylated extracellular signal‐regulated kinase (pERK) levels. In contrast, constructs expressing p.W362R, p.P562L, or the previously described p.R579X had no significant effect on pERK levels. These experiments suggest that the de novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function. Moreover, our study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption. 相似文献
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Prevalence of Giant Cell Arteritis Relapse in Patients Treated With Glucocorticoids: A Meta‐Analysis
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Nils Bomer Niels Grote Beverborg Martijn F. Hoes Koen W. Streng Mathilde Vermeer Martin M. Dokter Jan IJmker Stefan D. Anker John G.F. Cleland Hans L. Hillege Chim C. Lang Leong L. Ng Nilesh J. Samani Jasper Tromp Dirk J. van Veldhuisen Daan J. Touw Adriaan A. Voors Peter van der Meer 《European journal of heart failure》2020,22(8):1415-1423
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Sandie Millot Samuel Péan Laurent Labbé Thierry Kerneis Edwige Quillet Mathilde Dupont-Nivet Marie-Laure Bégout 《Behavior genetics》2014,44(4):383-393
The study of inter-individual variability of personality in fish is a growing field of interest but the genetic basis of this complex trait is still poorly investigated due to the difficulty in controlling fish genetic origin and life history. When available, isogenic lines that allow performing independent tests on different individuals having identical genotype constitute a very relevant experimental material to disentangle the genetic and environmental components of behavioural individuality. We took advantage of heterozygous isogenic lines to investigate the personality in rainbow trout through the analysis of their reactions to different experimental situations. To this end, seven to ten rainbow trout isogenic lines were screened for their spatial exploratory behaviour, their flight response toward a stressor and their risk taking behaviour. Results showed that some lines seemed less sensitive to new events or environmental changes and could be defined as low responsive, while others were very sensitive and defined as high responsive. The use of isogenic lines highlighted the importance of genetic factors, in combination with life history, in the expression of personality in domesticated fish. 相似文献
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Olga Andrini Mathilde Keck Sébastien L’Hoste Rodolfo Briones Lamisse Mansour-Hendili Teddy Grand Francisco V. Sepúlveda Anne Blanchard Stéphane Lourdel Rosa Vargas-Poussou Jacques Teulon 《Pflügers Archiv : European journal of physiology》2014,466(9):1713-1723
ClC-Kb, a member of the ClC family of Cl? channels/transporters, plays a major role in the absorption of NaCl in the distal nephron. CLCNKB mutations cause Bartter syndrome type 3, a hereditary renal salt-wasting tubulopathy. Here, we investigate the functional consequences of a Val to Met substitution at position 170 (V170M, α helix F), which was detected in eight patients displaying a mild phenotype. Conductance and surface expression were reduced by ~40–50 %. The regulation of channel activity by external H+ and Ca2+ is a characteristic property of ClC-Kb. Inhibition by external H+ was dramatically altered, with pKH shifting from 7.6 to 6.0. Stimulation by external Ca2+ on the other hand was no longer detectable at pH 7.4, but was still present at acidic pH values. Functionally, these regulatory modifications partly counterbalance the reduced surface expression by rendering V170M hyperactive. Pathogenic Met170 seems to interact with another methionine on α helix H (Met227) since diverse mutations at this site partly removed pH sensitivity alterations of V170M ClC-Kb. Exploring other disease-associated mutations, we found that a Pro to Leu substitution at position 124 (α helix D, Simon et al., Nat Genet 1997, 17:171–178) had functional consequences similar to those of V170M. In conclusion, we report here for the first time that ClC-Kb disease-causing mutations located around the selectivity filter can result in both reduced surface expression and hyperactivity in heterologous expression systems. This interplay must be considered when analyzing the mild phenotype of patients with type 3 Bartter syndrome. 相似文献