Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.
Sign Up to like & getrecommendations! Published in 2022 at "Stem cell research"
DOI: 10.1016/j.scr.2022.102689
Abstract: Leber congenital amaurosis (LCA) can be caused by mutations in more than 20 different genes. One of these, RPE65, encodes a protein essential for the visual cycle that is expressed in retinal pigment epithelium cells.… read more here.
Keywords: variant rpe65; patient; line; homozygous variant ... See more keywords
A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000291
Abstract: The patient presented to Clinical Genetics at 10 months old with poor growth, motor delay and marked joint hypermobility. He was the first-born child of consanguineous Pakistani parents with no family history except one stillbirth… read more here.
Keywords: patient; novel homozygous; patient kim; cant1 patient ... See more keywords
A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report
Sign Up to like & getrecommendations! Published in 2021 at "BMC Medical Genomics"
DOI: 10.1186/s12920-021-01048-0
Abstract: Background Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one of the prominent features of collagenopathies. Molecular defects of the COL2A1 gene cause type II collagenopathies that is mainly an autosomal… read more here.
Keywords: novel homozygous; type collagenopathies; case; homozygous variant ... See more keywords
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
Sign Up to like & getrecommendations! Published in 2023 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200048
Abstract: Background and Objectives Coenzyme Q10 (CoQ10) is an important electron carrier and antioxidant. The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 (DMQ10), the second-to-last step in the CoQ10 biosynthesis pathway. We report a consanguineous family… read more here.
Keywords: coq7; hereditary motor; homozygous variant; motor ... See more keywords
A Non-coding HES1 Variant Predisposes Children to Congenital Heart Disease in Chinese Population
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2021.631942
Abstract: Background: As a key component in the NOTCH signaling pathway, HES1 plays an important role in vertebrate heart development. Variants in the HES1 coding sequence are known to be associated with congenital heart disease (CHD).… read more here.
Keywords: heart; homozygous variant; non coding; chd ... See more keywords
Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2021.705489
Abstract: Benign recurrent intrahepatic cholestasis (BRIC) is a rare hereditary cholestatic liver disorder. Accurate diagnosis and timely interventions are important in determining outcomes. Besides clinical and pathologic diagnosis, genetic study of BRIC remains limited. Here, we… read more here.
Keywords: novel homozygous; homozygous variant; intrahepatic cholestasis; benign recurrent ... See more keywords