research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
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720-750 / 1000+ resultsresearch Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene
Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research LB1009 Baicalin, a component of the herbal medicine Baikal skullcap, inhibits epidermal necroptosis in SJS/TEN
Baicalin may help treat severe drug-induced skin reactions.
research Inhibiting dipeptidyl peptidase 4 positive fibroblasts using zinc sulfide cellulose nanofiber scaffolds to achieve scarless healing
Zinc sulfide cellulose scaffolds can reduce scarring and promote hair growth.
research Heparanase 1: a key participant of inner root sheath differentiation program and hair follicle homeostasis
Heparanase is essential for hair follicle health and inner root sheath differentiation.
research Roles of steroid sulfatase in brain and other tissues
Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
research Selenoproteins Are Essential for Proper Keratinocyte Function and Skin Development
Selenoproteins are crucial for healthy skin and hair.
research A Raman spectroscopy investigation of the resilience of hair cuticular scales under uniaxial stress
research Clinical Snippets
Apoptosis may play a role in feather and hair development, SF-36 is better for mental health in skin patients, a psoriasis gene is found in Caucasians, eosinophils might not be crucial for some skin allergies, and changes in atopic dermatitis could increase skin sensitivity.
research Multi-target evaluation of Korean herbal compounds against the SRD5A2 / AR / beta-catenin axis for androgenetic alopecia: Boltz-2 cofold, ChEMBL-anchored ranking, ADMET-AI 107-endpoint safety panel, and pilosebaceous single-cell atlas-constrained prioritization of Saponin Re, Emodin, and Biochanin A
Biochanin A from soy is a promising and safe candidate for treating hair loss.
research 62202 Network meta-analysis (NMA) of FDA-approved JAK inhibitors for alopecia areata (AA) with at least 50% hair loss per SALT score
Some JAK inhibitors are effective for significant hair regrowth in alopecia areata.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Functional analysis of the PIP5K1A gene in Liaoning Cashmere goats: an investigation based on bioinformatics, tissue localization, and biological functions
The PIP5K1A gene helps cashmere growth in goats by promoting cell proliferation, and melatonin boosts its expression.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Non-apoptotic role for caspase-7 in hair follicles and the surrounding tissue
Caspase-7 has functions in skin and hair that are not related to cell death.
research The new era of JAK inhibitors: Impelling updates in Alopecia Areata Guideline
research SALT score distribution with ritlecitinib treatment up to 24 months in alopecia areata
Ritlecitinib improves hair regrowth in alopecia areata over 24 months.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
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 Paxbp1 is Indispensable for the Maintenance of Hair Follicle Homeostasis
The Paxbp1 gene is crucial for healthy hair follicles.
research YAP1 promotes adipogenesis by regulating the negative feedback mechanism of the Hippo signaling pathway via LATS2
YAP1 helps fat cell formation by influencing the Hippo pathway.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Sisaipho alopecia areata treated with tofacitinib and oral minoxidil
Tofacitinib and oral minoxidil may help treat Sisaipho alopecia areata.
research Phospholipase C 1 is required for skin stem cell lineage commitment
Phospholipase Cδ1 is crucial for normal skin and hair development.
research CLK1 and its Effects on Skin Stem Cell Differentiation
CLK1 is needed for skin cells to become epidermal cells but not sebocytes.