research A Null Mutation in the Cystatin M/E Gene of Ichq Mice Causes Juvenile Lethality and Defects in Epidermal Cornification
A gene mutation in mice causes skin defects and early death.
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870-900 / 1000+ resultsresearch 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 Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
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.
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 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 Siberian Cats Help in Solving Part of the Mystery Surrounding Golden Cats
The CORIN gene variant causes the golden color in Siberian cats.
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 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 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 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 Case Report: NUDT15 Polymorphism and Severe Azathioprine-Induced Myelosuppression in a Young Chinese Female with Systemic Lupus Erythematosus: A Case Analysis and Literature Review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
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 A Population Pharmacokinetic Model for Individualized Regimens of Finasteride According to CYP3A5 Genotype and Liver Function
Finasteride dosages should be adjusted based on CYP3A5 genotype and liver function to avoid side effects.
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 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 Conversion of the Nipple to Hair-Bearing Epithelia by Lowering Bone Morphogenetic Protein Pathway Activity at the Dermal-Epidermal Interface
Blocking a specific protein signal can make hair grow on mouse nipples.
research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Insertional Mutation of the Hairless Locus on Mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Association of Gly972Arg Variant of Insulin Receptor Substrate-1 and Gly1057Asp Variant of Insulin Receptor Substrate-2 with Polycystic Ovary Syndrome in the Chinese Population
The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
research Hirsutism And Hypertrichosis In Adults: Investigations And Treatment
The document concludes that treatment for excessive hair growth depends on the cause, with options including hair removal methods and medications like anti-androgens or insulin-sensitizing drugs.
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 Alopecia With Vitamin D-Dependent Rickets Type 2A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Phenotypic-Genotypic Expansion of Plectinopathy in a Patient With Muscular Dystrophy and Immune-Mediated Myasthenia Gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research TRPV3 Gain-of-Function Mutation Impairs Differentiation of Hair Follicle Inner Root Sheath
A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
research Severe Thiopurine-Induced Myelotoxicity and Hair Loss in Japanese Patients with NUDT15 Gene Variant: A Retrospective Case-Control Study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
research Paraoxonase 1 (PON1) L55M and Q192R Polymorphisms, Lipid Profiles, and Psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research Female Pattern Hair Loss: Beyond an Androgenic Aetiology?
Estrogen and prolactin may play bigger roles in female hair loss than previously thought.