research FLCN regulates transferrin receptor 1 transport and iron homeostasis
FLCN helps control iron levels in cells.
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750-780 / 1000+ results research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene
A mouse gene mutation increases the risk of skin cancer.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research USING THE FROG EPIDERMIS TO UNCOVER DESMOSOME FUNCTION AND REGULATION IN THE DEVELOPING EMBRYO
Desmosomes are crucial for skin and heart development, and JNK may help regulate them.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene
Deleting part of a gene in mice causes wavy hair and high pup loss.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Table 1_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 effectively.
research The therapeutic potential of CRTH2/DP2 beyond allergy and asthma
CRTH2 antagonists might be useful for treating many conditions because they play a role in immune and inflammation responses.
research Human ClinicalPhenotype Associated with FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research Androgen receptor-mediated gene activation in prostate cancer cells
Androgen receptors help prostate cancer cells grow and resist drugs.
research 311 Single-cell transcriptomics reveals distinct molecular programs in folliculotropic mycosis fungoides
Folliculotropic mycosis fungoides has unique molecular features and cell interactions that could guide targeted therapy.
research GRHL3 binding and enhancers rearrange as epidermal keratinocytes transition between functional states
GRHL3 is important for controlling gene activity in skin cells during different stages of their development.
research The Role of Pannexin 3 in Bone Biology
Pannexin 3 is important for bone formation and the development of bone cells.
research Developmental Genetics of Color Pattern Establishment in Cats
Gene expression, especially Dkk4, is key to cat color patterns.
research Expression of melanocortin receptors on cutaneous fibroblastic cells – collagen and beyond
MC-1R in skin cells may influence inflammation and collagen production.
research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research RhoA promotes epidermal stem cell proliferation via PKN1-cyclin D1 signaling
RhoA helps skin stem cells grow, aiding wound healing.
research Nail Matrix Pathology in Cronkhite–Canada Syndrome: The First Case Report
Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
research TMPRSS2: A Key Host Factor in SARS-CoV-2 Infection and Potential Therapeutic Target
TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Corneal epithelial‐like transdifferentiation of hair follicle stem cells is mediated by pax6 and β‐catenin/Lef‐1
Hair follicle stem cells can become corneal-like cells with the help of pax6.
research Both Retinoic Acid Receptors α (RARα) and γ (RARγ) Are Able to Initiate Mouse Upper-Lip Skin Glandular Metaplasia
research Multiple roles for activated LEF/TCF transcription complexes during hair follicle development and differentiation
Activated LEF/TCF complexes are crucial for hair development and cycling.
research 078 The transmembrane protein LRIG1 regulates receptor tyrosine kinases in skin development and homeostasis
LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research 277 HPV8 E6 induced STAT3 activation leads to hair follicle junctional zone keratinocyte stem cell proliferation and expansion in actinic keratoses
HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
research lncRNAs UC.145 and PRKG1-AS1 Determine the Functional Output of DKK1 in Regulating the Wnt Signaling Pathway in Gastric Cancer
UC.145 may be a new biomarker for predicting gastric cancer.