research Adult Phenylketonuria: Neurological Manifestations and Evolutionary Modalities
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
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research Skin Biology: Understanding Biological Targets for Improving Appearance
The document concludes that a deeper understanding of skin aging and photodamage is needed to create better skin treatments.
research Hair: More Than Just an Appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research Sex Hormones and Related Compounds, Including Hormonal Contraceptives
The document concludes that sex hormones and related compounds have various effects on health, with both potential benefits and risks.
research News on PCOS
Estrogen-progestin contraception lowers ovarian, endometrial, and colon cancer risk but may raise breast and cervical cancer risk, helps with menstrual and acne issues, and new methods are as effective as pills. Metformin helps overweight women with PCOS and insulin resistance, and dopamine agonists treat prolactinomas.
research Hormonal Contraception And Breast Cancer: A Matter Of Context
Birth control pills slightly increase the risk of breast cancer, especially if used before the first full-term pregnancy.
research Do You Know This Syndrome? Loose Anagen Hair Syndrome in a Two-Year-Old Male Patient
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
research Recent Updates of the CRISPR/Cas9 Genome Editing System: Novel Approaches to Regulate Its Spatiotemporal Control by Genetic and Physicochemical Strategies
CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
research Epidermal Growth Factor Receptor Inhibitors: A Review of Cutaneous Adverse Events and Management
Skin side effects from cancer drugs targeting EGFR can affect treatment adherence but can be managed with antibiotics like tetracycline.
research Polyglandular Autoimmune Syndrome Type 4 with GAD Antibody and Dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research Genome-Wide Association Study and Transcriptome Differential Expression Analysis of the Feather Rate in Shouguang Chickens
Researchers found genes linked to feather growth speed in Shouguang chickens, highlighting two genes that might explain differences in feathering.
research Insight into Recent Advances in Degrading Androgen Receptor for Castration-Resistant Prostate Cancer
New treatments targeting androgen receptors show promise for drug-resistant prostate cancer.
research Forensic DNA Phenotyping: Male Pattern Baldness: Traditional Review
DNA markers can help predict male pattern baldness, useful in criminal and missing person cases.
research Present and Future Use of Exosomes in Dermatology
Exosomes could be key in treating skin conditions and healing wounds.
research Androgenetic Alopecia: An Update
Two drugs, finasteride and minoxidil, are approved for hair loss treatment, but new therapies are being developed.
research Case Report: A Study of the Clinical Characteristics and Genetic Variants of Post-Finasteride Syndrome Patients
Finasteride may cause lasting sexual and mental health issues, and genetic screening could help prevent them.
research Mutation-Specific siRNA Knockdown of GJB2: Potential Gene Therapy for Keratitis-Ichthyosis-Deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research A Novel Mutation in the FERMT1 Gene in a Spanish Family with Kindler’s Syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Hypomorphic Mutation in the Hairless Gene Accelerates Pruritic Atopic Skin Caused by Feeding a Special Diet to Mice
A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
research Analysis of the Hybrid Schwannoma and Neurofibroma Including a Case Report of Schwannomatosis Caused by a Mutation in the LZTR1 Gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Compound Heterozygous Mutations in the LIPH Gene at c.742C > A and c.614A > G: The First Japanese Case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Novel Small-Insertion Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Whole Exome Sequencing in Alopecia Areata Patients Identifies a Hotspot Mutation in the Type II Hair Keratin Gene, KRT82
A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
research Short Anagen Hair Syndrome Is Caused by Mutations in the WNT10A Gene and Has a Genetic Overlap With Male Pattern Hair Loss
Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
research Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research Detection of Mutations in the CYP21A2 Gene: Genotype-Phenotype Correlation in Slovenian Couples with Conceiving Problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.