research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
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240-270 / 1000+ results research The Mask Mutation Identifies TMPRSS6 as an Essential Suppressor of Hepcidin Gene Expression, Required for Normal Uptake of Dietary Iron.
TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
research Kinetic Studies with Transglutaminases
Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
research 085 Autoantigen screening in C3H/HeJ mouse model of alopecia areata revealed high antigenicity of melanocyte-associated antigen epitopes
Melanocyte-associated antigens may play a key role in alopecia areata and could be targets for new treatments.
research Meloside A Protects Dermal Papilla Cells from DHT-Induced Damage via Androgen Receptor Modulation
Meloside A may help protect hair cells from damage linked to hair loss.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research 1433 Epithelially derived, mitochondrial MPZL3 negatively regulates murine and human hair follicle cycling
A protein called MPZL3 in mitochondria slows down hair growth and could be a target for treating hair growth disorders.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
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 A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research A Novel Serine Protease Overexpressed in the Hair Follicles of Nude Mice
A new enzyme, BSSP, is found in high amounts in the hair follicles of nude mice.
research BMI1 is required for melanocyte stem cell maintenance and hair pigmentation
BMI1 is essential for preventing hair greying and maintaining hair color.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function
Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research Skin Aging and Menopause
Menopause can lead to skin and hair problems due to hormonal changes, but hormone replacement therapy might help slow these effects.
research Hormone replacement therapy and the skin
Estrogen replacement can improve skin health in menopausal women but doesn't reverse sun damage or prevent hair loss.
research The effect of menopause on the skin and other connective tissues
Menopause significantly reduces skin collagen, leading to thinner, less elastic skin, and hormone replacement may help but requires careful consideration.
research Plucked Human Hair Shafts and Biomolecular Medical Research
Human hair follicles may provide a noninvasive way to diagnose diseases and have potential in regenerative medicine.
research The Polycystic Ovary Syndrome and Acne
Polycystic Ovary Syndrome (PCOS) often leads to severe acne, and lifestyle changes and hormonal treatments can help manage it.
research Demographics and Clinical Characteristics among Patients with Distinct Psychosocial Burden Profiles Related to Vitiligo: Results of a Latent Class Analysis
Vitiligo's impact varies widely, affecting both emotions and social life, not just physical symptoms.
research Antidiabetic Management Strategies for Treatment of Polycystic Ovarian Syndrome
Combining antidiabetic drugs, hormonal therapies, and lifestyle changes can improve health in women with PCOS.
research And next… Adnexa: Frontal Fibrosing Alopecia
A 55-year-old woman with several health conditions did not see hair regrowth after a transplant.
research MLO-mediated Ca2+influx regulates root hair tip growth in Arabidopsis
MLO proteins are crucial for root hair growth by regulating calcium and ROS levels.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.