research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
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research Stem Cell-Derived Motor Neurons from Spinal and Bulbar Muscular Atrophy Patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research Expression of an Olfactomedin-Related Gene in Rat Hair Follicular Papilla Cells
FP-1 is a key protein in rat hair growth, active only during the growth phase.
research CCDC22 and CCDC93, Two Potential Retriever-Interacting Proteins, Are Required for Root and Root Hair Growth in Arabidopsis
CCDC22 and CCDC93 are essential for root and root hair growth in Arabidopsis.
research Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor
Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
research Hairless: A Nuclear Receptor Corepressor Essential for Skin Function
The Hairless gene is crucial for healthy skin and hair growth.
research Influence of Feed Restriction on the Wool Proteome: A Combined iTRAQ and Fiber Structural Study
Feed restriction in sheep leads to finer wool fibers but may reduce wool quality.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing Within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
research Tumor Necrosis Factor Alpha, Interferon Gamma, and Substance P Are Novel Modulators of Extrapituitary Prolactin Expression in Human Skin
TNFα, IFNγ, and Substance P significantly affect prolactin levels in human skin, suggesting new treatments for skin and hair conditions.
research The Susceptibility of Disulfide Bonds to Modification in Keratin Fibers Undergoing Tensile Stress
Disulfide bonds in keratin fibers break more easily under stress, especially when wet, affecting fiber strength.
research Chemical Bonds and Hair Behavior: A Review
Disulfide bonds are crucial for hair's strength, especially when wet.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Novel Insights Into the Molecular Mechanisms Underlying Generalized Glucocorticoid Resistance and Hypersensitivity Syndromes
Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
research Recent Advances in the Molecular Mechanisms Causing Primary Generalized Glucocorticoid Resistance
Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
research Protein Degradation: Expanding the Toolbox to Restrain Cancer Drug Resistance
Using protein degradation to fight cancer drug resistance shows promise but needs more precise targeting and fewer side effects.
research Phosphatase Regulator NIPP1 Restrains Chemokine-Driven Skin Inflammation
NIPP1 is important for healthy skin and could help treat skin inflammation.
research Atypical Hippocampal Glutamate Receptor Coupled to Phospholipase D Controlling Stretch-Sensitivity in Primary Mechanosensory Nerve Endings Is Homomeric Purely Metabotropic GluK2
A special receptor in sensory nerve endings helps control how they respond to stretching.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research Fine Mapping of the Human AR/EDA2R Locus in Androgenetic Alopecia
Genetic marker rs12558842 strongly linked to male hair loss.
research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hr^rh-R) in the Hairless Gene (Hr)
A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
research Function of KLF4 in Stem Cell Biology
KLF4 is important for maintaining stem cells and has potential in cancer treatment and wound healing.
research Is Dehydroepiandrosterone a Hormone?
Dehydroepiandrosterone (DHEA) is a prohormone important for producing sex steroids and has potential health benefits.
research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Design of a RADA16-Based Self-Assembling Peptide Nanofiber Scaffold for Biomedical Applications
RADA16 is a promising material for tissue repair and regenerative medicine but needs improvement in strength and cost.