research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
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research Acromegaloidism With Normal Growth Hormone Secretion Associated With X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Keratosis Follicularis Spinulosa Decalvans: What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research Genome-Wide Association Study in Alopecia Areata Implicates Both Innate and Adaptive Immunity
Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research The Pathogenesis of Alopecia Areata
Alopecia areata is likely caused by a combination of genetic factors and immune system dysfunction, and may represent different diseases with various causes.
research Dissection of Genetic Variation and Evidence for Pleiotropy in Male Pattern Baldness
Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
research Lanceolate Hair (Lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research Polycystic Ovary Syndrome (PCOS) Trilogy: A Translational and Clinical Review
The document concludes that more multidisciplinary research is needed to understand and treat PCOS, a condition that significantly affects women's health and quality of life.
research The Sheep KAP8-2 Gene, A New KAP8 Family Member That Is Absent In Humans
Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
research Treatment of Alopecia Areata: What Is New on the Horizon?
New treatments for alopecia areata may target specific immune cells and pathways involved in hair loss.
research Taking Advantage of Phenotype Variability in a Local Animal Genetic Resource: Identification of Genomic Regions Associated with the Hairless Phenotype in Casertana Pigs
Researchers found two genes that may explain why some Casertana pigs don't have hair.
research Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition
Researchers found a genetic region that influences the number of coat layers in dogs.
research Atrichia With Papular Lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Expression of Novel Keratin-Associated Protein 5 Genes in the Cuticle Layer of Human Hair Follicles
The study found nine new hair protein genes in human hair follicles.
research Identification of Novel Mutation in the HR Gene Responsible for Atrichia with Papular Lesions in a Pakistani Family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research Marie-Unna Hereditary Hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research An Australian Family With Macular Dystrophy Linked to Autosomal Recessive Alopecia Universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research The First Broad Replication Study of SNPs and a Pilot Genome-Wide Association Study for Androgenetic Alopecia in Asian Populations
Two specific genetic markers increase the risk of hair loss in Asian populations.
research Frontal Fibrosing Alopecia: Clinical Patterns and Associations
Frontal Fibrosing Alopecia is a hair loss condition mainly affecting postmenopausal women, with unclear causes and various clinical patterns.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research Familial Congenital Generalized Hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Hair, Aging, And Environment: Clinical Epidemiological Aspects
Environmental factors like smoking, UV exposure, and poor diet contribute to hair loss and graying, and lifestyle changes can help manage it.
research Alopecia Areata Is Associated With MICA and an Extended HLA Haplotype
Certain genes are linked to the risk of developing Alopecia Areata.
research Epigenetic Mechanism of Gtl2-miRNAs Causes the Primitive Sheep Characteristics Found in Purebred Merino Sheep
A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Atrichia With Papular Lesions Confirmed Via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research Papular Atrichia: A Case Report of an 8-Year-Old Girl
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.