Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …

Nonalcoholic fatty liver disease (NAFLD) is characterized by excessive fat accumulation in
the livers of patients without a history of alcohol abuse. It is classified as either simple …

Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which
encodes the calcium-binding protein otoferlin, are responsible for 1–8% of congenital …

The Novel Organic Cation Transporter, OCTN1, is the first member of the OCTN subfamily; it
belongs to the wider Solute Carrier family SLC22, which counts many members including …

Real-time digital polymerase chain reaction (qdPCR) coupled with machine learning (ML)
methods has shown the potential to unlock scientific breakthroughs, particularly in the field …

Hearing impairment (HI) is highly heterogeneous with over 123 associated genes reported
to date, mostly from studies among Europeans and Asians. Here, we performed a systematic …

Hepatocellular carcinoma (HCC) is a primary liver cancer characterized by hepatocellular
differentiation. HCC is molecularly heterogeneous with a wide spectrum of histopathology …

Diaphanous related formins are regulatory cytoskeletal protein involved in actin elongation
and microtubule stabilization. In humans, defects in two of the three diaphanous genes …

Background Hearing loss is a rare hereditary deficit that is rather common among
consanguineous populations. Autosomal recessive non-syndromic hearing loss is the …

Gut-liver axis and cellular homeostasis play key roles in alcohol liver disease (ALD). Nuclear
factor (erythroid-derived 2)-like 2 (Nrf2) is a stress-sensitive guarantor of cellular …