research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
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570-600 / 1000+ resultsresearch Pathobiology of the hairless phenotype: Dysregulation of hair follicle apoptosis and topobiology during the initiation of follicle cycling
Improper regulation of hair follicle processes causes hairlessness.
research The value of the free androgen index depends on the phenotype of polycystic ovary syndrome — a single-centre experience
The free androgen index varies among women with different types of PCOS.
research Isozyme phenotypes of polyoma virus tumors in mice.
DNA virus-induced tumors have consistent isozyme profiles, unlike other tumor types.
research Alopecia areata treatment with baricitinib: different relapse phenotypes
Baricitinib can lead to hair regrowth in alopecia areata but may also cause relapses.
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 Hair phenotype diversity across Indriidae lemurs
Lemur hair color and density vary by environment, supporting theories on primate hair evolution.
research HuR ablation destabilizes Foxp3 mRNA and impairs regulatory T cell function, contributing to an autoimmune phenotype
HuR is essential for Treg function and preventing autoimmunity.
research Unveiling Post-COVID-19 syndrome: incidence, biomarkers, and clinical phenotypes in a Thai population
Many people in Thailand have lingering symptoms after recovering from COVID-19.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs
Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research 036 Expanded T cells under lymphopenic condition exhibit memory phenotype and infiltrate around hair follicle
T cells with memory features grow in number and gather around hair follicles when there are not enough immune cells.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Prepregnancy Phenotype and Physiological Characteristics in PCOS
Women with PCOS have different body composition and some metabolic differences compared to healthy women.
research MON-218 Inflammatory Role of Sex Steroids in Hidradenitis Suppurativa: An Androgenic Phenotype
Sex hormones may be linked to inflammation in Hidradenitis Suppurativa.
research Perspectives of Alopecia behind the Regulation of Foxn1 Gene Exposes the Human Nude Phenotype
The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
research FoxN1 in K14 promoter-driven epithelium is required for generation and maintenance of 3D-thymus medulla and preventing nude phenotype in the skin (36.33)
FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
research 333 Poor perifollicular vascularization is associated with nutrient insufficiency and a quiescent metabolic phenotype in intermediate hair follicles from patients with female pattern hair loss
Poor blood supply in hair follicles is linked to nutrient deficiency in patients with female pattern hair loss, and adding more nutrients could potentially fix this.
research Shared Phenotypes Among Segmental Progeroid Syndromes Suggest Underlying Pathways of Aging
Short telomeres may cause symptoms like hair loss and osteoporosis, offering insights into aging.
research KERATIN PHENOTYPES IN BASAL-CELL CARCINOMAS OF THE SKIN
Basal cell carcinoma shows keratin patterns similar to hair follicle structures.
research Inheritance of Some Electrophoretic Phenotypes of Human Hair
Human hair protein patterns are inherited genetically.
research Location and phenotype of human adult keratinocyte stem cells of the skin
Stem cells are in deep skin layers, while differentiating cells are in shallow layers.
research Metabolic risk in PCOS: phenotype and adiposity impact
Women with PCOS face higher risks of diabetes and heart disease, and these risks increase with obesity.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
FGF5 gene mutations cause long hair in domestic cats.
research Changes in the PCOS phenotype with age
PCOS symptoms change with age; younger women have higher androgen levels and less metabolic issues, while older women face more metabolic challenges despite milder PCOS symptoms.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.