research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
Search
for
Sort by
Research
60-90 / 1000+ resultsresearch Azathioprine-Induced Severe Myelosuppression Accompanied by Massive Hair Loss and Painful Oral Ulcer in an Autoimmune Hepatitis Patient with NUDT15 Minor Variant: A Case Report
Genetic testing is crucial before giving azathioprine to avoid severe side effects.
research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research A Cell Polarity Protein, aPKCλ, Is Essential for Maintaining Hair Follicle Stem Cell Quiescence and Hair Follicle Regeneration
The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.
research Genetic Variants in AR and SHBG and Resistance to Hormonal Castration in Prostate Cancer
Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research The Association Between Interleukin-4 Gene Intron 3 VNTR Polymorphism and Alopecia Areata in Turkish Population
IL-4 gene variation may increase the risk of alopecia areata in Turkish people.
research GABRA2 Alleles Moderate the Subjective Effects of Alcohol, Which Are Attenuated by Finasteride
GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
research Azathioprine-Induced Alopecia Totalis and Knuckle Hyperpigmentation in a Child with Uveitis: Test Before You Leap!
Monitor for early signs of azathioprine toxicity and check blood counts regularly.
research Epidermolysis Bullosa Pruriginosa, Muscular Dystrophy, and Immune-Mediated Myasthenia Gravis in a Patient With Homozygous Nonsense PLEC Mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Female Pattern Hair Loss: Beyond an Androgenic Aetiology?
Estrogen and prolactin may play bigger roles in female hair loss than previously thought.
research 14-3-3σ Is Required for Club Hair Retention
The 14-3-3σ gene is essential for preventing hair loss.
research Loss of Adipocyte Phospholipase Gene PLAAT3 Causes Lipodystrophy and Insulin Resistance Due to Inactivated Arachidonic Acid-Mediated PPARγ Signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research STIM1 R304W in Mice Causes Subgingival Hair Growth and Increased Trabecular Bone Fraction
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Secretory Phospholipase A2-IIA Overexpressing Mice Exhibit Cyclic Alopecia Mediated Through Aberrant Hair Shaft Differentiation and Impaired Wound Healing Response
Mice with too much sPLA₂-IIA have hair loss and poor wound healing due to abnormal hair growth and stem cell depletion.
research Site of Beige and Leaden Pigment Gene Expression Determined by Recombinant Embryonic Skin Grafts and Aggregation Mouse Chimaeras Employing Sash Homozygotes
Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research A Direct Link Between Prss53, Hair Curvature, and Skeletal Dysplasia
The gene Prss53 affects hair shape and bone development in rabbits.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
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 Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
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 Signal Transducer and Activator of Transcription 5B Deficiency Due to a Novel Missense Mutation in the Coiled-Coil Domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research A Novel Mutation in Hr Causes Abnormal Hair Follicle Morphogenesis in Hairpoor Mouse, an Animal Model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research In Vitro Analyses of CD4-Protein Function in Dedifferentiated Keratinocyte Cell Lines
The CD4 protein may play a role in the behavior of certain skin cells, affecting their growth, movement, and differentiation.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research Postzygotic KRAS G12C Mutation Associated with Various Malignancies Also Underlying Epidermal Nevus Syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.