research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
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research 1408 INDUCTION OF SECRETED WNT FACTOR WISP1/CCN4 BY HUMAN PROSTATE STROMAL CELLS BY MICROENVIORNMENTAL HYPOXIA
Human prostate cells produce more WISP1/CCN4 when there's not enough oxygen.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Genetically separable determinants of hair keratin gene expression
Mutations in the Whn gene affect hair keratin gene expression differently.
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.
research The genetic evolution of skin squamous cell carcinoma: tumor suppressor identity matters
The type of tumor suppressor gene lost affects the behavior of skin cancer.
research Canonical WNT signaling promotes mammary placode development and is essential for initiation of mammary gland morphogenesis
WNT signaling is crucial for starting mammary gland development.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Transcriptomic analysis identifies regulators of the Wnt signalling and hypoxia-inducible factor pathways as possible mediators of androgenetic alopecia
research A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
A gene mutation in mice causes severe skin disorder similar to a human condition.
research Wnt/β-Catenin Signaling Pathway Targeting Androgenetic Alopecia: How Far Can We Go Beyond Minoxidil and Finasteride?
Targeting the Wnt/β-catenin pathway may lead to better treatments for hair loss.
research In vivo imaging of mammary epithelial cell dynamics in response to lineage-biased Wnt/β-catenin activation
Activating β-catenin in mammary cells leads to changes that cause early-stage abnormal growths similar to skin structures.
research Characterisation and functional analysis of the WIF1 gene and its role in hair follicle growth and development of the Angora rabbit
The WIF1 gene is crucial for hair growth in Angora rabbits.
research Bone Regeneration Is Regulated by Wnt Signaling
Wnt signaling is crucial for bone regeneration.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research Targeting Endogenous Wnt Antagonists for Therapy Development in AGA: a Focus on DKKs and sFRPs
research Two mouse mutations mapped to chromosome 11 with differing morphologies but similar progressive inflammatory alopecia
Two mouse mutations cause similar hair loss despite different skin changes.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata
The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
research Targeting Wnt/β-Catenin Pathway for Developing Therapies for Hair Loss
Activating the Wnt/β-catenin pathway could lead to new hair loss treatments.
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 a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Wnt signaling modulates mechanotransduction in the epidermis to drive hair follicle regeneration
Wnt signaling helps regenerate hair follicles by affecting how skin cells sense and respond to mechanical forces.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.