Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

Biallelic variants in GLDN have recently been associated with lethal congenital contracture syndrome 11 (LCCS11), a form of fetal akinesia deformation sequence (FADS) with high neonatal mortality. In this report, we describe five individuals from two Canadian Inuit families originating from different communities in Nunavik all affected with FADS and harboring a rare homozygous missense variant, [NM_181789.4:c.

Environmental Changes Recorded in Sedimentary Rocks in the Clay-Sulfate Transition Region in Gale Crater, Mars: Results From the Sample Analysis at Mars-Evolved Gas Analysis Instrument Onboard the Mars Science Laboratory Rover.

The rover explored the region between the orbitally defined phyllosilicate-bearing Glen Torridon trough and the overlying layered sulfate-bearing unit, called the "clay-sulfate transition region." Samples were drilled from the top of the fluviolacustrine Glasgow member of the Carolyn Shoemaker formation (CSf) to the eolian Contigo member of the Mirador formation (MIf) to assess in situ mineralogical changes with stratigraphic position. The Sample Analysis at Mars-Evolved Gas Analysis (SAM-EGA) instrument analyzed drilled samples within this region to constrain their volatile chemistry and mineralogy.

Organic Products of Fatty Acid and Magnesium Sulfate Mixtures after Gamma Radiolysis: Implications for Missions to Europa.

If ocean-derived materials are present at Europa's surface, they would represent accessible records of ocean chemistry and habitability, but such materials would be further processed by Europa's harsh radiation environment. In this study, saturated fatty acids were precipitated onto a Europa-relevant hydrated magnesium sulfate and exposed to gamma radiation doses up to 2 MGy at -196°C. Alkane chains, with carbon numbers one less than those of the starting fatty acids, were the most abundant radiolysis products in solvent and thermal extracts analyzed by gas chromatography mass spectrometry.

Highly enriched carbon and oxygen isotopes in carbonate-derived CO at Gale crater, Mars.

Carbonate minerals are of particular interest in paleoenvironmental research as they are an integral part of the carbon and water cycles, both of which are relevant to habitability. Given that these cycles are less constrained on Mars than they are on Earth, the identification of carbonates has been a point of emphasis for rover missions. Here, we present carbon (δC) and oxygen (δO) isotope data from four carbonates encountered by the Curiosity rover within the Gale crater.