research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
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270-300 / 310 resultsresearch Genome-Wide Association Study for Udder Conformation Traits in Chinese Holstein Cattle
Certain genes affect udder shape in Holstein cows, important for health and milk production.
research Expression Profile Analysis of MicroRNAs During Hair Follicle Development in the Sheep Fetus
Ten miRNAs may play key roles in starting secondary hair follicle development in sheep foetuses.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Bifidobacterium Is Enriched in Gut Microbiome of Kashmiri Women with Polycystic Ovary Syndrome
Women with PCOS have more Bifidobacterium in their gut compared to those without PCOS.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Anatomical Mapping and Density of Merkel Cells in Skin and Mucosae of the Dog
Dogs have varying numbers of touch-sensitive Merkel cells in different skin areas, with most in the oral mucosa and facial skin, unrelated to age, sex, breed, or color.
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 Ashwagandha Root in the Treatment of Non-Classical Adrenal Hyperplasia
Ashwagandha may improve hormone levels and reduce hair loss in non-classical adrenal hyperplasia.
research The Mean Staple Length of Wool Fiber Is Associated with Variation in the Ovine Keratin-Associated Protein 21-2 Gene
The KRTAP21-2 gene affects wool length and quality in sheep.
research The Potential Impact of Melanosomal pH and Metabolism on Melanoma
Melanin may help melanoma cells grow by aiding their metabolism.
research Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek
The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.
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 Genome-Wide Association Study of Fiber Diameter in Alpacas
Certain DNA regions in alpacas are linked to fiber diameter.
research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
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 A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Androgen-Associated and Androgen-Independent Causes of Alopecia and Acne in Women: Literature Review
The document concludes that hair loss and acne in women can be due to both androgen-related and unrelated causes, requiring a collaborative treatment approach.
research Trailing the Path to Preventive Oncology
Preventing cancer involves lifestyle changes, vaccinations, early screening, and understanding cancer's molecular basis.
research DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Skin Barrier, Phenotypic and Genotypic Characterization of Autosomal Recessive Ichthyosis in TGM1-Deficient Jack Russell Terriers and Response to Topical Ceramide
Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
research Study on the Expression Patterns of Inner Root Sheath-Specific Genes in Tan Sheep Hair Follicle During Different Developmental Stages
IRS-specific genes in Tan sheep hair follicles peak at birth and may affect wool crimp.
research Interpretation Of The Yak Skin Single-Cell Transcriptome Landscape
The study mapped yak skin cells to understand hair growth better.
research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
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 Development of Woolly Hair and Hairlessness in a CRISPR-Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.