Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases.
A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of …

Hexadecyltrimethylammonium cations (CTA + ) form ordered structures at the interface
between muscovite mica and aqueous solution. The structure is altered in the sequence bilayer …

… To date, mutations in three genes have been reported to cause RCDP. Specifically, these
genes encode the transporter PEX7, involved in peroxisomal biogenesis, and the enzymes …

Background Recent clinical whole exome sequencing (WES) cohorts have identified
unanticipated multiple genetic diagnoses in single patients. However, the frequency of multiple …

Myopathies are a clinically and etiologically heterogeneous group of disorders that can range
from limb girdle muscular dystrophy (LGMD) to syndromic forms with associated features …

… Lamont,1,5 Shuangbo Liu,1 Jill Wiechert,1,5 Peter A. Cattini,4,5 Peter Koetter,6 Klaus …
The blot was then stripped and reprobed for fibrillarin (FBL), a nuclear protein, so that equal …

Of the 29 human blood group system genes, 27 have been localized to 14 autosomes and 2
have been assigned to the X chromosome. It is remarkable that 28 of the 29 system genes …

… We model the CRB2 variants and re-examine exome data from two previously reported
cases of CRB2-related syndrome for additional sequence variants. Our findings show that some …

Cerebellar dysplasia with cysts (CDC) is an imaging finding typically seen in combination
with cobblestone cortex and congenital muscular dystrophy in individuals with …

Growing evidence suggests that a genetic program specifies the identity of arteries and
veins before the onset of circulation. A signaling cascade involving sonic hedgehog (Shh), …