research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
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210-240 / 1000+ resultsresearch Novel Type I Hair Keratins K39 and K40 Are the Last to be Expressed in Differentiation of the Hair: Completion of the Human Hair Keratin Catalog
K39 and K40 are the last keratins expressed in hair development, completing the hair keratin catalog.
research Characterization of Human KAP24.1, A Cuticular Hair Keratin-Associated Protein with Unusual Amino-Acid Composition and Repeat Structure
Scientists discovered a unique hair protein, KAP24.1, with a special structure, found only in the upper part of hair cuticles.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research The Molecular Biology of the Vitamin D Receptor
The vitamin D receptor can affect gene activity even without its usual hormone in hair and skin.
research A Novel Marker of Tissue Junctions, Collagen XXII
Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
research Identification of reptilian genes encoding hair keratin-like proteins suggests a new scenario for the evolutionary origin of hair
Reptiles have genes similar to hair proteins, suggesting hair's genetic origins predate mammals.
research The role of vitamin D receptor mutations in the development of alopecia
Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Against the Rules: Human Keratin K80
Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.
research Hair Keratins and Hair Follicle–Specific Epithelial Keratins
Hair and follicle keratins differ in structure and expression, especially in cysteine content.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research The organization of the keratin I and II gene clusters in placental mammals and marsupials show a striking similarity
Keratin gene clusters in humans and marsupials are similarly organized.
research Roles of MED1 in Quiescence of Hair Follicle Stem Cells and Maintenance of Normal Hair Cycling
MED1 is essential for normal hair growth and maintaining hair follicle stem cells.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research Tru9I Variant as a Novel Genetic Marker for Vitamin D Deficiency in Alopecia Areata
The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
research Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research In this Issue
New findings on hair keratin, wound healing, and skin blistering were presented.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research Krtap11-1, a hair keratin-associated protein, as a possible crucial element for the physical properties of hair shafts
Krtap11-1 is important for hair strength and structure.
research Male infertility and genitourinary birth defects: there is more than meets the eye
Male infertility and genitourinary birth defects are often linked to genetic issues.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research No difference in the proteome of racially and geometrically classified scalp hair sample from a South African cohort: Preliminary findings
Hair protein composition is similar across different races and shapes.
research Evaluation of Susceptibility Genes/Loci Associated with Male Androgenetic Alopecia (MAGA) for Female-Pattern Hair Loss in a Chinese Han Population and a Brief Literature Review
Male and female hair loss have different genetic causes.
research Cell Therapy for Androgenetic Alopecia: Elixir or Trick?
Stem cell therapies could be a promising alternative for hair loss treatment, but more research is needed to understand their full potential and safety.
research Androgen Regulation of the Human Hair Follicle: The Type I Hair Keratin hHa7 Is a Direct Target Gene in Trichocytes
The hHa7 gene is regulated by androgens in certain body hair, not scalp hair.
research Coming of Age of Melanogenesis-Related Proteins
Tyrosinase and gp100 proteins can help diagnose and treat melanoma.