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research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research 489 Seborrhea-like dermatitis phenotype in the Mpzl3 knockout mice
MPZL3 is crucial for seborrheic dermatitis development.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
research A missense mutation in Lama3 causes androgen alopecia
A gene mutation in Lama3 is linked to a common type of hair loss.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity
Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
research Molluscum Contagiosum Infection After 1927-nm Nonablative Fractional Laser Treatment
research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research USING THE FROG EPIDERMIS TO UNCOVER DESMOSOME FUNCTION AND REGULATION IN THE DEVELOPING EMBRYO
Desmosomes are crucial for skin and heart development, and JNK may help regulate them.
research FOXN1 Is Critical for Onycholemmal Terminal Differentiation in Nude (Foxn1nu) Mice
The Foxn1 gene is essential for normal nail and hair development.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Three-dimensional microanatomy of mechanoreceptors and their possible mechanism of sensory transduction.
Mechanoreceptors convert physical touch into electrical signals through specialized nerve structures.
research Trichorrhexis Nodosa After Hair Transplantation: Dermoscopic, Pathologic and Electron Microscopy Analyses
Hair transplant complications were likely due to deep graft placement and rough handling.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research The role of disulfide bond formation in the structural transition observed in the intermediate filaments of developing hair
Disulfide bonds are crucial for hair structure during keratinization.
research Dysregulation of Grainyhead-like 3 expression causes widespread developmental defects
Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
research Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in primary cicatricial alopecia
Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Faculty Opinions recommendation of Modulation of phospholipid signaling by GLABRA2 in root-hair pattern formation.
GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
research Sjogren-Larsson syndrome
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia
A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
research Alopecia Universalis Associated with a Mutation in the Human hairless Gene
A mutation in the human hairless gene causes alopecia universalis.
research Folliculotropic Mycosis Fungoides with Skewed T-cell Receptor CDR3 Motif: Suggestive of Lipid-antigen Selection?
Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.