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 Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.
research 44088 Clinical characteristics, treatment, and outcomes in patients with cutaneous squamous cell carcinoma of the scalp and ear at a reference center in Mexico
Patients with skin cancer on the scalp and ear in Mexico have specific features and results from their treatments.
research Parental Uveitis Influences Offspring With an Increased Susceptibility to the Experimental Autoimmune Uveitis
Parental uveitis increases offspring's risk and severity of autoimmune eye disease.
research Characterization of a mouse Scube3 reporter line
Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
research Isolation of sensory hair cell specific exosomes in human perilymph
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Pioneer of the Month
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research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research Childhood‐onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report
A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
research V07-10 SEMINAL VESICULOSCOPY FOR DIAGNOSIS AND MANAGEMENT OF HEMATOSPERMIA
The procedure involving seminal vesiculoscopy, TURED, and balloon dilation effectively treated a man's hematospermia and improved his dysorgasmia.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research New hopes and strategies for the treatment of severe ocular surface disease
New treatments using stem cells and special materials show promise for severe eye surface disease.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research LOSING SIGHT OF THE DIAGNOSIS: A CASE REPORT OF NEUROMYELITIS OPTICA SPECTRUM DISEASE AND SYSTEMIC LUPUS ERYTHEMATOSUS-NEUROAUTOIMMUNITY IN FOCUS, CORRELATION OR COINCIDENCE?
Correct diagnosis is crucial for treating overlapping conditions like NMOSD and SLE effectively.
research A Rare Case of Steroid Cell Tumor, Not Otherwise Specified (NOS), of the Ovary in a Young Woman
A young woman's rare ovarian tumor was successfully removed, improving her hormonal symptoms.
research Hair Replacement System in Miami /222
research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
research OR20-01 Machine Learning-based Steroid Metabolome Analysis In Women With Polycystic Ovary Syndrome Reveals Three Distinct Androgen Excess Subtypes With Different Metabolic Risk Profiles.
Machine learning identified three unique subtypes of androgen excess in women with PCOS, each with different metabolic risks.
research The functions of ocu-miR-205 in regulating hair follicle development in Rex rabbits
Ocu-miR-205 affects hair density in Rex rabbits by promoting cell changes and influencing hair follicle phases.
research Fever of unknown origin in a male patient with systemic lupus erythematosus.
SLE should be considered in unexplained fevers, even in males.
research SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure
Satoyoshi syndrome can occur without causing premature ovarian failure.
research Leporacarus gibbus (Acari: listrophoridae) in a naturally-infested domestic rabbit: first report of its occurrence in the state of Espírito Santo, Brazil
Leporacarus gibbus mite was found in a domestic rabbit in Espírito Santo, Brazil, for the first time.
research Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
research Metabolic dysfunction in obese Hispanic women with polycystic ovary syndrome
Obese Hispanic women with PCOS are at higher risk for metabolic problems than non-Hispanic white women.
research The functions of ocu-miR-205 in regulating hair follicle development in Rex rabbits
Ocu-miR-205 affects hair density in Rex rabbits by promoting cell changes and influencing hair follicle phases.
research Natural Killer Group 2 Type D (NKG2D) Gene Polymorphism in Systemic Lupus Erythematosus-Suez Canal Region - Egypt
NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.
research ROLE OF THE TRANSCRIPTION FACTOR SOX9 IN THE TUMORIGENESIS OF SOME DOMESTIC ANIMALS NEOPLASMS
Sox9 is important in the development of tumors in domestic animals.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.