research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
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research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Polarity signaling ensures epidermal homeostasis by coupling cellular mechanics and genomic integrity
Par3 protein is essential for skin cell balance and stability.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research EGFR Controls Hair Shaft Differentiation in a p53-Independent Manner
EGFR helps control how hair grows and forms without needing p53 protein.
research Role of Stearoyl-CoA Desaturase-1 in Skin Integrity and Whole Body Energy Balance
SCD1 is crucial for skin health and overall energy balance.
research Inflammatory Cytokine TNFα Promotes the Long-Term Expansion of Primary Hepatocytes in 3D Culture
TNFα helps grow and maintain liver cells in 3D culture for a long time.
research Hes1 regulates anagen initiation and hair follicle regeneration through modulation of hedgehog signaling
Hes1 protein is important for hair growth and regeneration, and could be a potential treatment for hair loss.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Genome scan for signatures of adaptive evolution in wild African goat (capra nubiana)
Wild African goats have genetic adaptations for surviving harsh desert conditions.
research Comparative regenerative mechanisms across different mammalian tissues
Understanding different species' regeneration can improve mammalian healing.
research Sperm aneuploidy in infertile male patients: a systematic review of the literature
Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.
research Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease
Histone demethylases can change gene expression and may be linked to diseases like cancer.
research The Role of Histone Demethylases in Disease
Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
research Diseases of Hair
research Diseases of Hair
research Subcellular localization of the five members of the human steroid 5α-reductase family
All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
research Epidermal patterning and induction of different hair types during mouse embryonic development
Different body areas in mice produce different hair types due to interactions between skin layers.
research Is There a Histone Code for Cellular Quiescence?
There might be a specific histone code for cellular quiescence, but more research is needed.
research Biliary fibrosis is an important but neglected pathological feature in hepatobiliary disorders: from molecular mechanisms to clinical implications
Biliary fibrosis is crucial in liver diseases and understanding it can help prevent and treat these conditions.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research The Interplay between Finasteride-Induced Androgen Imbalance, Endoplasmic Reticulum Stress, Oxidative Stress, and Liver Disorders in Paternal and Filial Generation
Finasteride in male rats causes liver and metabolic issues in their offspring.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research 1329 CENPV is a novel CYLD-interacting molecule regulating ciliary acetylated tubulin
CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
research LB1603 Centrosomes are required for the normal development of the skin epithelium
Centrosomes are essential for healthy skin and hair growth, and their role is different from that of cilia.