research Understanding Melanocyte Stem Cells for Disease Modeling and Regenerative Medicine Applications
Melanocyte stem cells are crucial for skin pigmentation and have potential in disease modeling and regenerative medicine.
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660-690 / 1000+ resultsresearch Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing.
Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
research Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research Spiny mice ( Acomys ) have evolved cellular features to support regenerative healing
Spiny mice can regenerate tissues instead of forming scars.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA
Humans have ancient DNA from Neanderthals and other lineages in their chromosomes, affecting traits and evolution.
research Sex-limited chromosomes and non-reproductive traits
Sex-limited chromosomes can affect traits not related to reproduction.
research Co-operation between follicular ornithine decarboxylase and v-Ha-ras induces spontaneous papillomas and malignant conversion in transgenic skin
High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research Facial hyperpigmentation caused by pigmented demodicosis
Facial hyperpigmentation improved with oral isotretinoin and ivermectin cream after Demodex mites were identified as the cause.
research Suppression of mammary tumorigenesis in transgenic mice by the RXR-selective retinoid, LGD1069.
LGD1069 effectively prevents breast tumors in mice without toxicity.
research DMBA/TPA Treatment Is Necessary for BCC Formation from Patched Deficient Epidermal Cells in Ptch flox/flox CD4Cre +/− Mice
Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Disturbed Keratinocyte Differentiation in Transgenic Mice and Organotypic Keratinocyte Cultures as a Result of Spermidine/Spermine N1-Acetyltransferase Overexpression
Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
research Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice
Hair loss in certain mice is linked to changes in keratin-related genes.
research Topical RT1640 treatment effectively reverses gray hair and stem cell loss in a mouse model of radiation‐induced canities
RT1640 treatment reverses gray hair and promotes hair growth in mice.
research β-Catenin Inactivation Is a Pre-Requisite for Chick Retina Regeneration
Inactivating β-catenin is essential for chick retina regeneration.
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 Prominent follicular mucinosis with diffuse scalp alopecia resembling alopecia areata
A woman's hair loss, resembling an autoimmune condition, improved after treatment, but requires ongoing checks due to potential serious associations.
research Eruptive vellus hair cysts: an original case occurring in twins
Twins had rare skin cysts likely due to genetics.
research Tail Tales: What We Have Learned About Regeneration from Xenopus Laevis Tadpoles
Xenopus laevis tadpoles can regenerate complex tail structures, offering insights for regenerative medicine.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice
Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Regenerative Versus Nonregenerative Repair of the Renal Medulla After Reversal of Ureteral Obstruction
Regenerative repair is essential to prevent long-term kidney function issues after obstruction.
research Murine skin-derived multipotent papillary dermal fibroblast progenitors show germline potential in vitro
Mouse skin cells can become sperm-like cells in the lab.