Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of
individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal …

Neurodegenerative retinal diseases, such as glaucoma and diabetic retinopathy, involve a
gradual loss of neurons in the retina as the disease progresses. Central nervous system …

Although anion channel activities have been demonstrated in sarcoplasmic
reticulum/endoplasmic reticulum (SR/ER), their molecular identities and functions remain …

Though the concentration of chloride has been measured in the cytoplasm and in secretory
granules of live cells, it cannot be measured within the endoplasmic reticulum (ER) due to …

Patients with inherited retinal dystrophies (IRDs) were recruited from two understudied
populations: Mexico and Pakistan as well as a third well-studied population of European …

Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. It is the most
common form of inherited retinal dystrophy, characterized by progressive degradation of …

Autophagy initiation is regulated by the ULK1 kinase complex. To gain insights into functions
of the holo-complex, we generated a deep interactome by combining affinity purification-and …

Next-generation sequencing (NGS) has greatly advanced the studies of causative genes
and variants of inherited diseases. While it is sometimes challenging to determine the …

Congenital scoliosis (CS) is a birth defect with variable clinical and anatomical
manifestations due to spinal malformation. The genetic etiology underlying about 10% of CS …

To delineate the genetic bases of primary congenital glaucoma (PCG), we ascertained a
large cohort consisting of 48 consanguineous families. Of these, we previously reported 26 …