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Showing 1261 to 1270 of 1270 entries
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine

Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, Earl RK, Nowakowski T, Bernier RA, Eichler EE.
PMID: 33874999
Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6.

BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding...

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine

Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, Earl RK, Nowakowski T, Bernier RA, Eichler EE.
PMID: 33874999
Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6.

BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding...

A prospective cohort of patients with common scabies treated with 10% benzyl benzoate emulsion as monotherapy: EPIGALE study.

International journal of dermatology

Caumes E, Marty M, Cadot M, Boulanger P, Rousseaux C, Petit A.
PMID: 34510429
Int J Dermatol. 2021 Sep 12; doi: 10.1111/ijd.15879. Epub 2021 Sep 12.

BACKGROUND: In addition to general measures, pharmacological treatment is the basis of the management of scabies. No recent data in real-life are available on the efficacy and safety of 10% benzyl benzoate emulsion for skin application administered as monotherapy.METHOD:...

Zinc and cadmium accumulation in controlled crosses between metallicolous and nonmetallicolous populations of Thlaspi caerulescens (Brassicaceae).

The New phytologist

Frérot H, Petit C, Lefèbvre C, Gruber W, Collin C, Escarré J.
PMID: 33873409
New Phytol. 2003 Mar;157(3):643-648. doi: 10.1046/j.1469-8137.2003.00701.x.

•   Growth and heavy metal (Zn and Cd) hyperaccumulation were investigated in metallicolous and nonmetallicolous Mediterranean populations of Thlaspi caerulescens (Brassicaceae), and in offspring from controlled crosses between these populations. •   Seeds for the growth and crossing experiments were...

Five-Dimensional Optical Data Storage Based on Ellipse Orientation and Fluorescence Intensity in a Silver-Sensitized Commercial Glass.

Micromachines

Park CH, Petit Y, Canioni L, Park SH.
PMID: 33255189
Micromachines (Basel). 2020 Nov 24;11(12). doi: 10.3390/mi11121026.

Five-dimensional (5D) recording and decoding is demonstrated by using femtosecond direct laser writing in a silver-containing commercial glass. In particular, laser intensities and ellipse orientations generated by anamorphic focusing are employed to produce 5D data storage unit (3D for...

Extended Venous Dissection Complicating Common Femoral Artery Puncture.

EJVES vascular forum

Hamdan R, Petit V.
PMID: 34917996
EJVES Vasc Forum. 2021 Nov 22;54:1. doi: 10.1016/j.ejvsvf.2021.11.002. eCollection 2022.

No abstract available.

Endothelial Cell Orientation and Polarity Are Controlled by Shear Stress and VEGF Through Distinct Signaling Pathways.

Frontiers in physiology

Vion AC, Perovic T, Petit C, Hollfinger I, Bartels-Klein E, Frampton E, Gordon E, Claesson-Welsh L, Gerhardt H.
PMID: 33737879
Front Physiol. 2021 Mar 02;11:623769. doi: 10.3389/fphys.2020.623769. eCollection 2020.

Vascular networks form, remodel and mature under the influence of multiple signals of mechanical or chemical nature. How endothelial cells read and interpret these signals, and how they integrate information when they are exposed to both simultaneously is poorly...

Cervical spine injury response to direct rear head impact.

Clinical biomechanics (Bristol, Avon)

Beauséjour MH, Petit Y, Wagnac É, Melot A, Troude L, Arnoux PJ.
PMID: 34999391
Clin Biomech (Bristol, Avon). 2021 Dec 17;92:105552. doi: 10.1016/j.clinbiomech.2021.105552. Epub 2021 Dec 17.

BACKGROUND: Direct rear head impact can occur during falls, road accidents, or sports accidents. They induce anterior shear, flexion and compression loads suspected to cause flexion-distraction injuries at the cervical spine. However, post-mortem human subject experiments mostly focus on...

Male Differentiation in the Marine Copepod .

Biology

Sugier K, Laso-Jadart R, Vacherie B, Käfer J, Bertrand L, Labadie K, Martins N, Orvain C, Petit E, Wincker P, Jamet JL, Alberti A, Madoui MA.
PMID: 34356512
Biology (Basel). 2021 Jul 13;10(7). doi: 10.3390/biology10070657.

Copepods are among the most numerous animals, and they play an essential role in the marine trophic web and biogeochemical cycles. The genus Oithona is described as having the highest density of copepods. The Oithona male paradox describes the...

Hydroxychloroquine and azithromycin used alone or combined are not effective against SARS-CoV-2 ex vivo and in a hamster model.

Antiviral research

Cochin M, Touret F, Driouich JS, Moureau G, Petit PR, Laprie C, Solas C, de Lamballerie X, Nougairède A.
PMID: 34838583
Antiviral Res. 2022 Jan;197:105212. doi: 10.1016/j.antiviral.2021.105212. Epub 2021 Nov 24.

Drug repositioning has been used extensively since the beginning of the COVID-19 pandemic in an attempt to identify antiviral molecules for use in human therapeutics. Hydroxychloroquine and azithromycin have shown inhibitory activity against SARS-CoV-2 replication in different cell lines....

Showing 1261 to 1270 of 1270 entries