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Sox10 is required for systemic initiation of bone mineralization.
Development
January 2025
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Heterozygous variants in SOX10 cause congenital syndromes affecting pigmentation, digestion, hearing, and neural development, primarily attributable to failed differentiation or loss of non-skeletal neural crest derivatives. We report here an additional novel requirement for Sox10 in bone mineralization. Neither crest- nor mesoderm-derived bones initiate mineralization on time in zebrafish sox10 mutants, despite normal osteoblast differentiation and matrix production.
View Article and Find Full Text PDFExpression of PAX6 and Keratocyte-Characteristic Markers in Human Limbal Stromal Cells of Congenital Aniridia and Healthy Subjects, .
Curr Eye Res
January 2025
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Saar, Germany.
Purpose: Our aim was to examine the expression of PAX6 and keratocyte-specific markers in human limbal stromal cells (LSCs) in congenital aniridia (AN) and in healthy corneas, .
Methods: Primary human LSCs were extracted from individuals with aniridia (AN-LSCs) ( = 8) and from healthy corneas (LSCs) ( = 8). The cells were cultured in either normal-glucose serum-containing cell culture medium (NGSC-medium) or low-glucose serum-free cell culture medium (LGSF-medium).
Hypertensive disorders of pregnancy affected thyroid hormone synthesis via endoplasmic reticulum stress in preterm infant rats.
Heliyon
January 2025
Department of Neonatology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China.
Background: Maternal hypertensive disorders of pregnancy (HDP) was associated with increased risk of congenital hypothyroidism in preterm infants, but its underlying mechanisms remain unclear.
Objective: To investigate the possible mechanisms by which intrauterine exposure to HDP affects thyroid hormone synthesis in preterm infant rats.
Methods: preterm infant rats were obtained by Caesarean section delivery from the L-NAME group and Control groups which was induced by L-NAME and saline, respectively.
A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Orphanet J Rare Dis
December 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Meier-Gorlin syndrome (MGORS) is a rare autosomal inherited form of primordial dwarfism. Pathogenic variants in 13 genes involved in DNA replication initiation have been identified in this disease, but homozygous intronic variants have never been reported. Additionally, whether growth hormone (GH) treatment can increase the height of children with MGORS is unclear.
View Article and Find Full Text PDFIntramuscular Cellular Nodules in a Congenital Large Plaque-Like Blue Nevus: Melanoma or Not?
Am J Dermatopathol
December 2024
Department of Surgical Oncology, St. John's Medical College & Hospital, Bangalore, India.
Introduction: Melanoma arising in blue nevus (BN) is usually evident on histopathology. However, there are cases in the gray zone where neither morphology nor immunostains and molecular studies are conclusive.
Case Report: A 33-year-old man presented with greenish discoloration of the abdominal skin at birth.
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