research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
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420-450 / 1000+ results research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Cidea Control of Lipid Storage and Secretion in Mouse and Human Sebaceous Glands
Cidea is essential for proper lipid storage and secretion in sebaceous glands, affecting skin and hair health.
research Noncicatricial alopecia from systemic lupus erythematosus
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research CCN2 modulates hair follicle cycling in mice
The protein CCN2 controls hair growth by affecting hair follicle formation and stem cell activity in mice.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Defining the Cellular Environment in the Organ of Corti following Extensive Hair Cell Loss: A Basis for Future Sensory Cell Replacement in the Cochlea
The conclusion is that genetic differences affect how the cochlea heals after hair cell loss, which may challenge the creation of hearing loss treatments.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Autoantibodies to Hair Follicles in C3H/HeJ Mice With Alopecia Areata–Like Hair Loss
research 851 The role of astrotactin2 in regulating mammalian skin polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Characterization of Hair Follicles in Hirosaki Hairless Rats with Deletion of Basic Hair Keratin Genes. Enlarged Medulla, Loss of Cuticle and Long Catagen
Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research Anterior, frontal congenital triangular alopecia, redundancy in therapy without improvement
Recognizing congenital triangular alopecia is crucial to avoid unnecessary treatments.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
research Dermoscopic Features of Pili Annulati: Features of PA
Pili annulati causes zebra-striped hair but doesn't affect hair strength or quality of life.
research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects
A mutation in mice causes hair loss and immune problems.
research Immunologic findings in central centrifugal cicatricial alopecia
CCCA may be caused by both hair traction and an immune response.
research Common genetic hair shaft abnormalities may be visualized by light and electron microscope
Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research Kerion celsi due to Microsporum audouinii: a severe form in an immunocompetent girl
A 9-year-old girl with a healthy immune system was successfully treated for a severe fungal scalp infection caused by Microsporum audouinii.
research Diseases of Periocular Hair
The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research A prospective descriptive study of 100 patients with facial trichostasis spinulosa
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.