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Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation.
Stem Cell Res
December 2024
Department of Cardiac Surgery, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China; Binjiang Institute of Zhejiang University, Hangzhou, Zhejiang, China; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. Electronic address:
The leucine zipper-like transcriptional regulator 1 (LZTR1) gene has been reported to be associated with many kinds of human diseases, including cardiac disease, Noonan syndrome, and schwannomatosis. In this study, peripheral blood mononuclear cells (PBMCs) derived from patient diagnosed with dilated cardiomyopathy (DCM) was successfully reprogrammed into the human induced pluripotent stem cells (iPSCs) line, harboring a distinct heterozygous mutation in the LZTR1 gene. The established patient-derived iPSCs expressed endogenous pluripotent markers, demonstrated the potential to differentiate into three germ layers (endoderm, mesoderm, and ectoderm), and exhibited a normal karyotype.
View Article and Find Full Text PDFDysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in mice.
JCI Insight
November 2024
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
Leucine-zipper-like posttranslational regulator 1 (LZTR1) is a member of the BTB-Kelch superfamily, which regulates the RAS proteostasis. Autosomal dominant (AD) mutations in LZTR1 have been identified in patients with Noonan syndrome (NS), a congenital anomaly syndrome. However, it remains unclear whether LZTR1 AD mutations regulate the proteostasis of the RAS subfamily molecules or cause NS-like phenotypes in vivo.
View Article and Find Full Text PDFLZTR1 loss-of-function variants associated with café au lait macules with or without freckling.
Front Neurol
August 2024
Charité-Universitätsmedizin Berlin, Department of Pediatric Neurology, Berlin, Germany.
Pathogenic variants in the leucine zipper-like transcriptional regulator 1 gene () have been identified in schwannomatosis and Noonan syndrome. Here, we expand the phenotype spectrum of variants. We identified four loss-of-function heterozygous variants in five children with multiple café au lait macules and one adult with multiple café au lait macules and axillar freckling, by applying gene panel analysis in four families.
View Article and Find Full Text PDFA novel leucine zipper-like transcriptional regulator 1 variant identified in a pair of siblings with familial schwannomatosis.
Surg Neurol Int
August 2024
Department of Neurological Surgery, University of Miami Miller School of Medicine, Miami, Florida, United States.
Background: Schwannomatosis is a rare genetic disorder marked by the emergence or predisposition to developing multiple schwannomas. Patients typically present with chronic pain or a mass in the second or third decade of life. Schwannomatosis is characterized by its associated gene, or if the specific gene is not known, then a descriptor is used.
View Article and Find Full Text PDFA genetic investigation in five Chinese families with keratoconus.
PeerJ
September 2024
Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
Background: This study investigated the genetic characteristics of five Chinese families with keratoconus (KC).
Methods: In the five families affected by KC, medical records, clinical observations, and blood samples were collected from all individuals. All KC family members ( = 20) underwent both whole exome sequencing of genomic DNA and Sanger sequencing to confirm the variants.
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