research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
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research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
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 Deficient Anterior Pituitary With Common Variable Immune Deficiency (David Syndrome): A New Case and Literature Reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Congenital Erythropoietic Porphyria: Five Years of Observation with Standard Treatment - A Case Report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
research Longitudinal Clinical Course in Patients With 5α-Reductase Type 2 Deficiency Treated With Testosterone and Dihydrotestosterone During Infancy and Puberty
Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research The Diagnosis of Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Based on Serum Basal or Post-ACTH Stimulation 17-Hydroxyprogesterone Can Lead to False-Positive Diagnosis
Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research HDAC6-Dependent Deacetylation of NGF Dictates Its Ubiquitination and Maintains Primordial Follicle Dormancy
HDAC6 helps keep ovarian follicles dormant, extending female fertility.
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 Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Increased Risk of Chronic Fatigue and Hair Loss Following COVID-19 in Individuals with Hypohidrotic Ectodermal Dysplasia
People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
research Heterozygous COL5A1 Deletion in a Cat with Classical Ehlers-Danlos Syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
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 TRPV3 Ion Channel: From Gene to Pharmacology
The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research The Immunological Impact of IL-1 Family Cytokines on the Epidermal Barrier
IL-1 family cytokines are crucial for skin defense and healing, but their imbalance can cause skin diseases.
research Gene Network Analysis Reveals Candidate Genes Related to Hair Follicle Development in Sheep
Key genes crucial for sheep hair follicle development were identified, aiding fine wool breeding and human hair loss research.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Endocrinology
The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Alopecia in Harlequin Mutant Mice Is Associated with Reduced AIF Protein Levels and Expression of Retroviral Elements
Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
research 20th Annual Symposium of the British Society of Pediatric Dermatology, 11-12 November 2005, Newcastle Upon Tyne, UK
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research A Subset of TREM2+ Dermal Macrophages Secretes Oncostatin M to Maintain Hair Follicle Stem Cell Quiescence and Inhibit Hair Growth
Certain immune cells in the skin release a protein that stops hair growth by keeping hair stem cells inactive.