research Characterization of a Mouse Scube3 Reporter Line
Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
Search
for
Sort by
Research
30 / 1000+ results 
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 Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach
CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
research The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Phenotypic Variability Associated with WNT10A Nonsense Mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Candidate Gene Analysis of Alopecia Areata in Jordanian Population of Arab Descent: A Case-Control Study
The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Association of Rs231775 Genetic Variant of Cytotoxic T-Lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case-Control Study
The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
research Homozygous Missense Mutation in the LIPH Gene Causing Autosomal Recessive Hypotrichosis Simplex in a Chinese Patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
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 Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research A Homozygous Nonsense Mutation Identified in COL7A1 in a Family with Autosomal Recessive Dystrophic Epidermolysis Bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Homozygous Whole Body Cbs Knockout in Adult Mice Features Minimal Pathology During Aging Despite Severe Homocysteinemia
Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
research Polycystic Ovary Syndrome Is Linked With the Fat Mass Obesity (FTO) Gene Variants rs17817449 and rs1421085 in Western Saudi Arabia
Certain gene variants are linked to a higher risk of polycystic ovary syndrome, hair loss, and obesity in women from western Saudi Arabia.
research A Homozygous Missense Mutation in the Fibroblast Growth Factor 5 Gene Is Associated with the Long-Hair Trait in Angora Rabbits
A specific gene mutation causes long hair in Angora rabbits.
research Scraggly: A New Hair Loss Mutation on Mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
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 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 Independent DSG4 Frameshift Variants in Cats with Hair Shaft Dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome
Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
research Uncombable Hair Syndrome Due to Maternal Uniparental Disomy of Chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research A Homozygous Single T Deletion Found in the GGCX Gene with PXE-Like Phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research A Novel Mutation in the FERMT1 Gene in a Spanish Family with Kindler’s Syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.