research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
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research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Pathological Modeling of Epidermolysis Bullosa Simplex Using Induced Pluripotent Stem Cells
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research A Rare Case of Vitamin D Dependent Rickets Type II: A Case Report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research Case Study: Hereditary Cancer Genetic Testing in Unaffected Patients May Allow for Early Intervention and Aggressive Management
Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.
research Commentary 2
Genetic factors play a major role in acne.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic Congenital Adrenal Hyperplasia
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Structural Perspectives on the Androgen Receptor, the Elusive Shape-Shifter
The androgen receptor's shape-changing ability helps it function but can lead to cancer treatment resistance.
research ALX4-Related Frontonasal Dysplasia Sequence Presenting With Alopecia in a 12-Year-Old Girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
research Trichothiodystrophy Hair Shafts Display Distinct Ultrastructural Features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research Porokeratotic Adnexal Ostial Nevus: A Paradigm of Cutaneous Mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Structural Basis for the Catalysis and Inhibition of Human Steroid 5α-Reductase 2
The research gives new understanding on how human steroid 5α-reductases work and how drugs like finasteride inhibit them, which could help in creating new drugs.
research Loss of Adipocyte Phospholipase Gene PLAAT3 Causes Lipodystrophy and Insulin Resistance Due to Inactivated Arachidonic Acid-Mediated PPARγ Signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research Deep Phenotyping of Patients with Xeroderma Pigmentosum and Trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research In This Issue
Genetically repaired stem cells may treat certain genetic diseases, Th17 cells are key in fighting systemic fungal infections, hair loss in AGA is due to progenitor cell loss, and α-synuclein transfer might contribute to Parkinson's disease progression.
research In The Quest To Stymie Time, Will Laboratory Data Stand Up In Man?
Genetic manipulations that extend lifespan in mice may not work as effectively in humans.
research Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
research Adipocyte Lineage Cells Contribute to the Skin Stem Cell Niche to Drive Hair Cycling
Fat-related cells are important for initiating hair growth.
research Reversible Activation of c-Myc in Skin
Activating c-Myc in skin causes rapid cell growth and changes, but these effects are reversible.
research Aging and Immortality: Quasi-Programmed Senescence and Its Pharmacologic Inhibition
The conclusion is that using drugs to block the TOR pathway might slow aging and prevent age-related diseases.
research The Expanding Significance of Keratin Intermediate Filaments in Normal and Diseased Epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
research The Effects of Estrogens on Linear Bone Growth
Oestrogens are key for bone growth during puberty in both boys and girls.
research WNT Signaling in Disease
The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
research Hair Follicle-Specific Keratins And Their Diseases
Only a few hair-specific keratins are linked to inherited hair disorders.
research Regulatory T Cells: The Many Faces of Foxp3
Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
research Impact of Estrogens in Males and Androgens in Females
Both estrogens and androgens are important for health in both males and females.
research Frizzled Receptors in Development and Disease
Frizzled receptors are essential for various body development processes and maintaining certain body functions.