research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
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240-270 / 315 resultsresearch 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 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 NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
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 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 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 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 Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
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 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 Mutational Analysis of Mitochondrial DNA in Maternal Inheritance of Polycystic Ovarian Syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
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.
research The Feasibility and Utility of Hair Follicle Sampling to Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome: A Pilot Study
Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
research Clouston Syndrome: A Complete Genotype–Phenotype Correlation After Four Decades And Six Generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.