research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
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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.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
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 Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes
The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Identification of a secreted BMP antagonist, ectodin, integrating BMP, FGF, and SHH signals from the tooth enamel knot
Ectodin integrates BMP, SHH, and FGF signals in developing ectodermal organs.
research Gene expression of type 2 17β hydroxysteroid dehydrogenase in scalp hairs of hirsute women
Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Androgen- and Estrogen-Secreting Adrenal Cancers
Rare adrenal cancers that secrete androgens or estrogens have a poor prognosis and are treated primarily with surgery.
research Polymorphic CAG repeat numbers in the androgen receptor gene of female pattern hair loss patients
Longer CAG repeats in gene linked to more severe hair loss in females.
research Increased androgen receptor messenger RNA in frontal-parietal hair follicles of women with androgenetic alopecia
Women with hair loss have more androgen receptors in certain hair follicles.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research 203 Inhibin A is downregulated during chemotherapy in patients with breast cancer
Chemotherapy significantly lowers Inhibin A levels in breast cancer patients.
research Diagnostic approach to low‐renin hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research Analysis of genome DNA methylation at inherited coat-color dilutions of Rex Rabbits
Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
research Section 2: Single Best Answers Questions 51–120
The document tests knowledge and decision-making in hematology through multiple-choice questions.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Significance of the polyglutamine tract polymorphism in the androgen receptor
The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Isolation and Characterization of a Novel Hair Follicle–Specific Gene, Hacl-1
Researchers found a new gene, hacl-1, that is active in mouse hair follicles during hair growth and may be important for hair biology.
research Effects of non-ablative fractional erbium glass laser treatment on gene regulation in human three-dimensional skin models
Erbium glass laser treatment may help with skin remodeling, reduce inflammation, and improve skin cell maturation.
research Methods of hair loss evaluation: a comparison of TrichoScan®with the modified wash test
The modified wash test is better than TrichoScan® for diagnosing hair loss.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
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.