research The expression of the gene asebia in the laboratory mouse: 3. Sebaceous glands
Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
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research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium
Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
research Data Sheet 1_A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism.docx
Researchers created an efficient method to extract DNA from marmoset hair, reducing blood chimerism.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue
A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Clinical Snippets
Some cells may slow melanoma growth, a protein could affect skin pigmentation, a gene-silencing method might treat hair defects, skin bacteria changes likely result from eczema, and a defensin protein could help treat multiple sclerosis.
research Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Androgenic alopecia associated with the HSD3B1 (1245a>c) in overweight women with polycystic ovarian syndrome
The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
research Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.
research The role of functional variants in the aetiology of polycystic ovary syndrome
A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Dermal EZH2 orchestrates dermal differentiation and epidermal proliferation during murine skin development
Dermal EZH2 controls skin cell development and hair growth in mice.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family
A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
research 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
research Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability
New genetic locations explain much of hair color variation in Europeans.
research Analysis of genome DNA methylation at inherited coat-color dilutions of Rex Rabbits
Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
research Dissection of a Complex Enhancer Element: Maintenance of Keratinocyte Specificity but Loss of Differentiation Specificity
Keratinocyte gene expression is controlled by multiple modules with specific binding sites.
research Future Directions: Gene Polymorphism Diagnostics Relevant to Hair
research Case Study: Hereditary Cancer Genetic Testing in Unaffected Patients May Allow for Early Intervention and Aggressive Management
Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.
research The Genetics of Seborrheic Dermatitis: A Candidate Gene Approach and Pilot Genome-Wide Association Study
No strong genetic link to other skin conditions was found, but some genetic factors may make people more likely to get seborrheic dermatitis.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.