Objectives/Hypothesis To perform a systematic review of GJB2‐associated hearing loss to
describe genotype distributions and auditory phenotype. Data Sources 230 primary studies …

The fundamental functions of epithelia and endothelia in multicellular organisms are to
separate compositionally distinct compartments and regulate the exchange of small solutes …

BACKGROUND & AIMS: In the small intestine, the paracellular transport of Na+ is thought to
be critical for luminal Na+-homeostasis and the transcellular absorption of nutrients by Na+ …

Kidney stone disease is a common condition. To search for sequence variants conferring
risk of kidney stones, we conducted a genome-wide association study in 3,773 cases and …

METHODS This study was done on probands with ARNSHI and their relatives from Spain,
Italy, France, Belgium, the United Kingdom, Israel, the Palestinian Authority, the USA, Brazil …

Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …

The inner ear is a very complex sensory organ whose development and function depend on
finely balanced interactions among diverse cell types. The many different kinds of inner ear …

Mutations in the genes coding for connexin 26 (Cx26) and connexin 31 (Cx31) cause non-
syndromic deafness. Here, we provide evidence that mutations at these two connexin genes …

GJB2 mutations are major causes of autosomal recessive nonsyndromic hearing loss
(ARNSHL) in many populations. However, a few mutations have an ethnic-specific …

Aims: Mutations in the GJB2 gene–encoding connexin 26 protein are the main cause for
autosomal recessive nonsyndromic hearing loss worldwide. In this study, we assessed the …