Objective Rare genetic disorders resulting in prenatal or neonatal death are genetically
heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples …

… (A) F2002 fibroblasts incubated with AD169; (B) monocytes cultured for 7 days and
incubated with M; (C) monocytes cultured for 7 days and incubated with AD169 (multiplicity of …

… During this process, the complete polypeptide chain for the inhibitor complex was examined
periodically with F o – F c , 2F o – F c and composite omit electron density maps. Where …

We previously described a splice donor site mutation in intron 4 of presenilin-1 (PSEN1) in
two patients with autopsy-confirmed early-onset Alzheimer's disease (AD). Here we provide …

It is currently thought that fragile X syndrome (FraX; the most common inherited form of
learning disability) results from having more than 200 cytosine–guanine–guanine (CGG) …

… non-standard Peptides Integrated Discovery) system, composed of five amino acids in a
head-to-side-chain thioether macrocycle and a further four amino acids in a 3 10 helical C …

… appear to adopt an unusual 2 C 5 conformation in solution, as evidenced by … C 5 conformation
in solution. However, at a higher pH, once deprotonated, the piperidine reverts to the 5 C …

… of hydrogen and oxygen, allowing C–F to replace C–H, C–OH, and C=O groups with little to
no … As a result, the C–F bond is one of the most polar bonds in organic chemistry, as well as …

… Its C-terminal cupin domain then rearranges the triply modified arginine to N δ -hydroxy-N
ω -methyl-N ω -nitroso-l-citrulline, the proposed donor of the functional pharmacophore. Here …

Recent studies have identified both recessive and dominant forms of mitochondrial disease
that result from ATAD3A variants. The recessive form includes subjects with biallelic …