research NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
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90-120 / 1000+ resultsresearch Hair Follicle Immune Privilege and Its Collapse in Alopecia Areata
Hair follicles are normally protected from the immune system, but when this protection fails, it can cause hair loss in alopecia areata.
research Candidate SNP Markers of Reproductive Potential Predicted by Significant Change in Affinity of TATA-Binding Protein for Human Gene Promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research ATP-Dependent Chromatin Remodeling During Mammalian Development
ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research A Role of Placental Growth Factor in Hair Growth
Placental growth factor may help treat hair loss.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Narrowband UVB Treatment Induces Expression of WNT7B, WNT10B, and TCF7L2 in Psoriasis Skin
Narrowband UVB treatment increases certain gene expressions in psoriasis skin and improves symptoms.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research MicroRNA Control of Signal Transduction
MicroRNAs are crucial in controlling cell signaling, affecting cancer and tissue regeneration.
research Exploring the Efficacy of Testosterone Undecanoate in Male Children with 5α-Reductase Deficiency
Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
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 Early Skin Seeding Regulatory T Cells Modulate PPARγ-Dependent Skin Pigmentation
Early regulatory T cells are crucial for normal skin pigmentation.
research The Metabolic Syndrome-Associated Small G Protein ARL15 Plays a Role in Adipocyte Differentiation and Adiponectin Secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Transcriptomic Analyses of Regenerating Adult Feathers in Chicken
Chicken feather growth involves specific genes and shares similarities with hair development.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research Wnt/β-Catenin Signaling Stabilizes Hemidesmosomes in Keratinocytes
Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
research Dysregulation of Grainyhead-Like 3 Expression Causes Widespread Developmental Defects
Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
research PNKP Is Required for Maintaining the Integrity of Progenitor Cell Populations in Adult Mice
PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research Why Were Sardinians the Shortest Europeans? A Journey Through Genes, Infections, Nutrition, and Sex
Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.
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 Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angioedema
The conclusion suggests a new way to classify bradykinin-mediated angio-oedema based on different causes and its possible link with urticaria, which could improve diagnosis and treatment.
research Induction of Hyperandrogenism and Insulin Resistance Differentially Modulates Ferroptosis in Uterine and Placental Tissues of Pregnant Rats
HAIR may cause fetal loss by triggering different cell death processes in the uterus and placenta.
research Molecular Background of Phosphate Deficiency-Induced Root Hair Growth in Brassica Carinata: A Fasciclin-Like Arabinogalactan Protein Is Involved
BcFLA1 protein is crucial for root hair growth in response to low phosphate in Brassica carinata.
research Testosterone: The Male Sex Hormone
More research is needed to understand how testosterone is maintained in adult males.