research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
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research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Enhanced Ectodysplasin-A Receptor Signaling Alters Multiple Fiber Characteristics to Produce the East Asian Hair Form
A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
research Recent Advances in the Molecular Mechanisms Determining Tissue Sensitivity to Glucocorticoids: Novel Mutations, Circadian Rhythm, and Ligand-Induced Repression of the Human Glucocorticoid Receptor
New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
research Primary Generalized Glucocorticoid Resistance And Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution, And Tumor-Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
research Pathophysiology of Behçet's Disease
Behçet's Disease may be caused by genetic and environmental factors leading to abnormal immune responses, and stress management and new treatments could improve patient outcomes.
research Keratosis Follicularis Spinulosa Decalvans in a Female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Association Between Polymorphisms of OCT1 and Metabolic Response to Metformin in Women with Polycystic Ovary Syndrome
Certain genetic variations in OCT1 may improve insulin sensitivity with metformin in women with PCOS.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
research Polymorphism in the A2M Gene Associated with High-Quality Milk in Murrah Buffaloes (Bubalus Bubalis)
Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
research Association of Follicle-Stimulating Hormone Receptor Gene Ser680Asn (rs6166) Polymorphism with Polycystic Ovarian Syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research A Tale of Two Haplotypes: The EDA2R/AR Intergenic Region Is the Most Divergent Genomic Segment Between Africans and East Asians in the Human Genome
The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
research Genotyping Of The Rs1800440 Polymorphism In CYP1B1 Gene And The Rs9258883 Polymorphism In HLA-B Gene In A Spanish Cohort Of 223 Patients With Frontal Fibrosing Alopecia
Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic Congenital Adrenal Hyperplasia
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research A Rare Cause of Irrevocable Childhood Alopecia Feigning Alopecia Universalis: Atrichia Congenita With Papular Lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research White Lupin Cluster Root Acclimation to Phosphorus Deficiency and Root Hair Development Involve Unique Glycerophosphodiester Phosphodiesterases
White lupin uses specific genes to grow root hairs and access phosphorus when it's scarce.
research Genome-Wide Association Study in Japanese Females Identifies Fifteen Novel Skin-Related Trait Associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research Early Onset and Novel Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Becker's Nevus Associated with Chromosomal Mosaicism and Congenital Adrenal Hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research Copy Number Variation Regions in Nellore Cattle: Evidence of Environmental Adaptation
Nellore cattle have genetic variations linked to their adaptation to tropical environments.
research Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak
The research found specific genes that may cause longer hair in Tianzhu White Yak.
research Monilethrix: A Rare Inherited Hair Shaft Disorder in Siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness
Hairless mammals have genetic changes in both their protein-coding and regulatory sequences related to hair.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Autosomal Recessive Hypotrichosis Simplex With Woolly Hair: A Report of a New Family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Evolution And Genetic Architecture Of Sex-Limited Polymorphism In Cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.