research Repigmentation of Leukoderma in a Piebald Patient Associated with a Novel c-KIT Gene Mutation, G592E, of the Tyrosine Kinase Domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
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research Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Safety of Whole-Body Abrogation of the TRF1 Shelterin Protein in Wild-Type and Cancer-Prone Mouse Models
Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
research Polymorphic CAG Repeat Numbers in the Androgen Receptor Gene of Female Pattern Hair Loss in a Han Chinese Population
No significant link between CAG repeat numbers and female pattern hair loss in Han Chinese population.
research Function of KLF4 in Stem Cell Biology
KLF4 is important for maintaining stem cells and has potential in cancer treatment and wound healing.
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 Gender Specificity of a Genetic Variant of Androgen Receptor and Risk of Coronary Artery Disease
A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
research Markers of Peripheral Androgen Action In Vivo and In Vitro
Dihydrotestosterone (DHT) is crucial for conditions like male-pattern baldness and acne, and measuring a byproduct, androstanediol glucuronide, is a better way to assess DHT's effects than DHT blood levels.
research 5α-Reductase Inhibitors: Evaluation of Their Potential Confounding Effect on GC-C-IRMS Doping Analysis
5α-reductase inhibitors can interfere with doping tests by masking banned substances.
research How a Bird Gets Its Feathers: Insights from Chromatin Looping
Feather patterns are influenced by enhancers and chromatin looping, and the structure of protein complexes important for hair growth has been detailed.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Mechanism of Androgenic Alopecia: Addressing Speculations Through Empirical Evidence
Hair loss in men is mainly caused by hormones and genes, and while current treatments can slow it down, they can't fully stop it.
research Biotechs Target Stagnant Baldness Market
New drug shows promise for better hair growth in baldness treatment.
research Sequence And Structure Based Assessment Of Non-Synonymous SNPs In Hypertrichosis Universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research De Novo Assembly and Annotation of Asiatic Lion (Panthera Leo Persica) Genome
The Asiatic lion has very low genetic diversity and unique genetic traits, highlighting the need for its conservation.
research Clinical and Laboratory Characteristics of Individuals Aged 17 Years or Younger With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Monilethrix
A three-year-old girl has hair loss despite treatment with selenium sulfide shampoo and anti-fungal medication.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Nevoid Basal Carcinoma Syndrome (Gorlin Syndrome) and Pronounced Androgenic Alopecia in a Woman with a Novel Mutation p.Leu1159fsx32 in the PTCH Gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research 5-Alpha-Reductase Deficiency in a Saudi Girl
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research LncRNA MTC Enhances the Proliferation of Liaoning Cashmere Goat Skin Fibroblasts by Modulating GSTM1-ASK1 Interaction
LncRNA MTC boosts growth of goat skin cells, improving cashmere quality.
research Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research The Necessity of Investigations to Clarify Sex and Racial Disparities in Pathophysiology of Long COVID
More research is needed to understand sex and racial differences in long COVID.
research Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother
A new gene mutation causes insulin resistance in a girl and her mother.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
research Medical Care for Children and Adolescents with Gender Dysphoria and Gender Inconsistency in Light of Current Recommendations: How to Implement the 'Primum Non Nocere' Principle?
The safety and effectiveness of gender-affirming treatments for children are uncertain, with potential long-term risks like infertility.
research Hypotrichosis and Hair Loss on the Occipital Scalp
A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.