research Sparse haplotype-based fine-scale local ancestry inference at scale reveals recent selection on immune responses
Recent selection on immune response genes was identified across seven ethnicities.
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660-690 / 1000+ results research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research ELL Facilitates RNA Polymerase II–Mediated Transcription of Human Epidermal Proliferation Genes
ELL is crucial for gene transcription related to skin cell growth.
research Joint study of the associations of HLA‐B and the transmembrane short tandem repeat polymorphism of MICA protein with alopecia areata shows independent associations of both with the disease
Both HLA-B and MICA are independently linked to alopecia areata.
research The Janus kinase 1 inhibitor abrocitinib for the treatment of oral lichen planus
research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hrrh-R) in the Hairless Gene (Hr)
A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
research A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice
Scientists found a gene in mice that causes early hearing loss.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Acne Keloidalis Nuchae
AKN might be a skin marker for metabolic syndrome.
research Molecular Background of Pi Deficiency-Induced Root Hair Growth in Brassica carinata – A Fasciclin-Like Arabinogalactan Protein Is Involved
BcFLA1 protein is crucial for root hair growth in response to low phosphate in Brassica carinata.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Keratin 15 promotes a progenitor cell state in basal keratinocytes of skin epidermis
Keratin 15 helps maintain skin cell growth and repair.
research 546 Gene expression signatures and ALADIN score correlates with response of alopecia areata patients to treatment with JAK inhibitors
The ALADIN score can predict how well patients with alopecia areata will respond to JAK inhibitor treatments.
research Bioinformatics analysis of genes associated with the patchy-type alopecia areata: CD2 may be a new therapeutic target
CD2 might be a new treatment target for patchy alopecia areata.
research Detection of a Second KAP22 Family Member in Sheep and Analysis of Its Genetic Variation and Associations with Selected Wool Fibre Traits
The KRTAP22-2 gene in sheep does not significantly affect wool traits.
research Assembly of Hair Keratins in Transfected Epithelial Cells
Mouse hair keratins mHa1 and mHb4 can't form a strong network on their own in cells.
research Lineage‐specific requirements of Alx4 function in craniofacial and hair development
ALX4 is crucial for normal craniofacial and hair development, with specific roles in different cell types.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research CCDC22 and CCDC93, two potential retriever-interacting proteins, are required for root and root hair growth in Arabidopsis
CCDC22 and CCDC93 are essential for root and root hair growth in Arabidopsis.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation
A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
research Keratin 6A promotes skin inflammation through JAK1-STAT3 activation in keratinocytes
Keratin 6A increases skin inflammation, suggesting it could be a target for treating certain skin diseases.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.