EL/Sea mice are characterized by 100% incidence of agenesis of the third molars (M3). In a previous study, chromosomal mapping of the ninth generation EL/Sea congenic strains revealed a major locus for agenesis of M3, designated am3, in the 125-137 Mbp region of chromosome 3. In the present study, to determine the precise location of the am3 locus, we produced further generations of the EL/Sea congenic strains for am3 in which the restricted interval on chromosome 3 of EL/Sea was replaced by a MSM/Msf-derived homolog. The eleventh generation congenic mice that were either heterozygous or homozygous for the MSM/Msf-derived interval exhibited a significant decrease in the incidence of M3 agenesis (p < 0.00001). Results confined the am3 locus to an interval of 1 Mbp on chromosome 3, demonstrating that Lef1, one of the essential transcription factors for early tooth development, is the strongest candidate for am3.
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http://dx.doi.org/10.1007/s10528-013-9602-0 | DOI Listing |
Pak J Med Sci
January 2025
Lamei Yuan, MD, PhD, Health Management Center, the Third Xiangya Hospital, Disease Genome Research Center, Center for Experimental Medicine, the Third Xiangya Hospital, Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha 410013, Hunan, China.
Objective: To identify the disease-causing variant in a family with tuberous sclerosis complex (TSC).
Methods: This study including a Han-Chinese pedigree recruited from the Third Xiangya Hospital, Central South University, Changsha, Hunan, China was conducted between February, 2019 and January, 2023. Detailed clinical examinations were performed on the proband and other family members of a Han-Chinese family with TSC.
Sudan J Paediatr
January 2024
Elite Center for Genetics Diagnosis, Khartoum, Sudan.
Trisomy 22 is a rare autosomal constitutional chromosomal disorder with high survival incompatibility being the third most frequent trisomy in spontaneous abortions and accounting for 10%-15% of all cases. Mosaic trisomy 22 is a less severe variant of the disorder associated with mild phenotype and longer lifespan compared to cases with complete trisomy 22. To date, there have only been 25 reported cases of trisomy 22 worldwide.
View Article and Find Full Text PDFRev Cardiovasc Med
January 2025
Cardio-Metabolic Center, Fu Wai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 10037 Beijing, China.
Sleep is a fundamental phenomenon that helps maintain normal physiological processes. Conversely, sleep disorders, usually presented as insomnia, are a common public health problem that can lead to multiple pathophysiological changes in humans, including lipid metabolic abnormality. Interestingly, several previous studies have examined the potential relation of insomnia to metabolic syndrome and hyperlipidemia and found that insomnia was associated with elevated plasma cholesterol and triglyceride concentrations.
View Article and Find Full Text PDFAcad Radiol
January 2025
Radiology Department, the First Affiliated Hospital of Jinzhou Medical University, Jinzhou, China (J.Z., F.X., Q.S., J.T., S.W., X.L.). Electronic address:
Rationale And Objectives: Severe COVID-19 typically results in pulmonary sequelae. However, current research lacks clarity on the differences in these sequelae among various clinical subtypes. This study aimed to evaluate the changing lung imaging features and predictive factors in patients with COVID-19 pneumonia in northern China over a 12-month follow-up period after the relaxation of COVID-19 restrictions in 2022.
View Article and Find Full Text PDFLipids Health Dis
January 2025
Department of Neurosurgery, The Third Affiliated Hospital of Soochow University, Changzhou, Jiangsu, 213000, China.
Background: Stroke has emerged as an escalating public health challenge among middle-aged and older individuals in China, closely linked to glycolipid metabolic abnormalities. The Hemoglobin A1c/High-Density Lipoprotein Cholesterol (HbA1c/HDL-C) ratio, an integrated marker of glycolipid homeostasis, may serve as a novel predictor of stroke risk.
Methods: Our investigation utilized data from the China Health and Retirement Longitudinal Study cohort (2011-2018).
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