research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
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690-720 / 1000+ results research Expression of the Orphan Protein Plet-1 during Trichilemmal Differentiation of Anagen Hair Follicles
Plet-1 protein helps hair follicle cells move and stick to tissues.
research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome
Improved genetic diagnosis of PCOS can lead to better patient outcomes.
research Foxp1 Regulates the Proliferation of Hair Follicle Stem Cells in Response to Oxidative Stress during Hair Cycling
Foxp1 helps control hair stem cell growth and response to stress during hair growth cycles.
research BMI1 is required for melanocyte stem cell maintenance and hair pigmentation
BMI1 is essential for preventing hair greying and maintaining hair color.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Peripheral blood gene expression in alopecia areata reveals molecular pathways distinguishing heritability, disease and severity
Blood tests can help understand the genetic differences in people with alopecia areata, including how severe it is and if it's inherited.
research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.
A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
research Table 1_Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study.docx
SQSTM1 is linked to increased risk of alopecia areata.
research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Microarray Gene Expression Analysis of Lesional Skin in Canine Pemphigus Foliaceus
Canine pemphigus foliaceus involves significant immune activity and shares similarities with human pemphigus.
research Two Mechanisms Regulate Keratin K15 Expression In Keratinocytes: Role of PKC/AP-1 and FOXM1 Mediated Signalling
Keratin 15 expression in skin cells is regulated by two mechanisms involving PKC/AP-1 and FOXM1.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Longer TA repeat but not V89L polymorphisms in the SRD5A2 gene may confer acne risk in the Chinese population
Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
research P7 p63, K14 and p53 expression in epithelial layers of tumor-distant oral mucosa in patients with oral squamous cell carcinoma
research Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation
Desmocollin 1 is essential for strong skin and proper skin function.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
research Study on kerantin association protein 8.1 gene expression of Liaoning cashere goats in skin and hair follicle
Higher expression of the keratin-associated protein 8.1 gene in Liaoning cashmere goats is linked to finer cashmere fibers.
research Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl
Precocious puberty can signal familial adenomatous polyposis.
research Alopecia and hair repigmentation associated with anti-programmed death-ligand 1 (PD-L1) immunotherapy
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 865 Single-cell protein activity inference analysis of full-thickness skin uncovers novel pathways and a rare Arg1+ macrophage population in AA
Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.
research A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11
Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
research The TNFRSF1B Connection: Implications for Androgenetic Alopecia Pathogenesis and Treatment
Targeting the TNFRSF1B gene may help treat hair loss.
research Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fzica) mice points to fuzzy as a key element of hair cycle control
The fuzzy gene is crucial for controlling hair growth cycles.
research Central Centrifugal Cicatricial Alopecia (CCCA)
CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.