research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
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research 475 Paraoxonase 1 (PON1) L55M and Q192R polymorphisms, lipid profiles and psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research 1616 Cross-comparison of inflammatory skin disease transcriptomics identifies PTEN as a pathogenic disease classifier in cutaneous lupus erythematosus
PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
research Pten loss in Lgr5+ hair follicle stem cells promotes SCC development
Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research PTEN Mediates Activation of Core Clock Protein BMAL1 and Accumulation of Epidermal Stem Cells
PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.
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 Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Regulation of immune response genes in the skin of allergic and clinically tolerant individuals exposed to p‐phenylenediamine
Everyone has an immune response to PPD, but reactions differ, causing tolerance, mild inflammation, or allergy.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Message of protease nexin-1 is expressed in human dermal papilla cells and is affected by androgen
Protease Nexin-1 is found in human hair growth cells and is affected by male hormones.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Cloning of the human phenol sulfotransferase gene family: three genes implicated in the metabolism of catecholamines, thyroid hormones and drugs
Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
research 1410 Single-cell RNA sequencing reveals POUF51 and HES3 as regulators of the stem cell population in psoriasis
POUF51 and HES3 are key in controlling stem cell numbers in psoriasis.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.
research Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population
Certain gene changes in osteopontin are linked to higher risk of atopic dermatitis and asthma.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.