research Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice
Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
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150-180 / 1000+ results research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research MALE PSEUDOHERMAPHRODITISM DUE TO 17β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY: STUDIES ON THE NATURAL HISTORY OF THE DEFECT AND EFFECT OF ANDROGENS ON GENDER ROLE
Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research Follicular mucinosis associated with pregnancy
Pregnancy can trigger follicular mucinosis, which may resolve after delivery.
research Evidence that mirex promotes a unique population of epidermal cells that cannot be distinguished by their mutant Ha-ras genotype
Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research DIFFERENT HORMONAL PATTERNS IN PREP'UBERTAL HYPERTRICHOSIS
research Gene and tonic: Sonic hedgehog disruption and fetal alcohol syndrome
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Metabolic and transcriptomic reprogramming during contact inhibition-induced quiescence is mediated by YAP-dependent and YAP-independent mechanisms
Quiescent cells have increased mitochondrial activity and ECM gene expression, but reduced glycolysis.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research ZmSPL10, ZmSPL14 and ZmSPL26 act together to promote stigmatic papilla formation in maize through regulating auxin signaling and ZmWOX3A expression
ZmSPL10, ZmSPL14, and ZmSPL26 genes are essential for forming maize structures needed for pollen capture and kernel production.
research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
research A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism
The method effectively extracts high-quality DNA from marmoset hair, avoiding blood chimerism.
research Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies
Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Transcriptional Characteristics Showed That miR-144-y/FOXO3 Participates in Embryonic Skin and Feather Follicle Development in Zhedong White Goose
miR-144-y and FOXO3 play key roles in skin and feather development in Zhedong White geese.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Msx2 Prevents Stratified Squamous Epithelium Formation in the Enamel Organ
Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
research Restoration of Spermatogenesis and Male Fertility Using an Androgen Receptor Transgene
Scientists restored fertility in male mice lacking a key fertility gene by using a modified gene.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Part 1. Genetic pathway of maternal transmission in Topiramate-treated zebrafish modelPart 2.Effects of herbal medicine on zebrafish embryos
Topiramate impairs gene transmission in zebrafish, while Ginkgo biloba reduces harmful effects of high β-catenin levels.
research Correlation of Metabolic Syndrome in Different Phenotypes of Polycystic Ovary Syndrome and Pregnancy Rate
Different types of PCOS affect metabolic syndrome and pregnancy rates differently.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Developmental origin of polycystic ovary syndrome - a hypothesis
The hypothesis suggests that PCOS may start early in life due to genetic and environmental factors, influencing future reproductive and metabolic problems.
research DO ANDROGENS MAKE STRAIGHT A STUDENTS?: EXPLORING THE LINK BETWEEN HYPERANDROGENISM AND BLASTOCYST GRADE
Hyperandrogenism does not affect the quality of blastocysts in PCOS patients undergoing IVF.
research Functional analysis of thymosin beta-4 using over-expressing transgenic mice
Melanoma cells lose their ability to form tumors when placed in a zebrafish embryo environment.