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AUC and APL are distinct conditions needing careful clinical assessment.
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540-570 / 1000+ resultsresearch Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
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 Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Discovery of Four New FGF5 Variants Causing Long Hair in the Dog
Four new FGF5 gene variants cause long hair in dogs.
research Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Oral Presentation Abstracts
The conclusions are: fecal short-chain fatty acids may help prevent cancer, fiber intake can reduce obesity, weight loss is hard for obese people, low BMI cancer patients are more prone to chemotherapy side effects, intermittent fasting benefits gut health, cherry laurel has health benefits in rats, certain gene variations can increase stress in hair loss patients, fecal acids can affect blood sugar levels, cold agglutinin can affect blood test results in autoimmune patients, and people with Crohn's disease have higher levels of a certain chemical in their blood.
research Short Peptides Induce Development of Root Hair Nicotiana tabacum
Certain short peptides can increase root hair growth in tobacco plants.
research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
research ERG induces androgen receptor-mediated regulation of SOX9 in prostate cancer
ERG increases SOX9, promoting prostate cancer growth and invasion.
research Symptomatic zinc deficiency in a full-term breast-fed infant
Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss
AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
research Alopecia areata
Alopecia areata involves immune response and gene changes affecting hair loss.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research The disrupted balance between hair follicles and sebaceous glands inHoxc13‐ablated rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Genetic disorders of keratin: are scarring alopecias a sub-set?
Keratin mutations may cause scarring alopecia by damaging hair structure.