research Unusual acute lupus hemophagocytic syndrome – a test of diagnostic criteria: a case report
The 2012 criteria are better for diagnosing atypical lupus cases.
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research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Inhibition of class I HDACs preserves hair follicle inductivity in postnatal dermal cells
Inhibiting class I HDACs helps maintain hair growth ability in skin cells.
research Congenital hair loss disorders: Rare, but not too rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Measurement of level of vitamin D and Antioxidants in Discoid Lupus Erythematosus patients
Patients with Discoid Lupus Erythematosus have lower vitamin D and antioxidant levels and higher oxidative stress.
research Hair distribution width – a novel trichoscopy parameter for hair miniaturization in androgenetic alopecia
New method, hair distribution width (HDW), improves accuracy in diagnosing androgenetic alopecia (AGA).
research LHX2: a transcription factor in development, homeostasis, repair, and disease
LHX2 is crucial for development, tissue repair, and preventing diseases.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Association Between LDL-C and Androgenetic Alopecia Among Female Patients in a Specialty Alopecia Clinic
Higher bad cholesterol levels are linked to more severe female pattern hair loss.
research Interactions of the Vitamin D Receptor with the Corepressor Hairless
Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
research Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report
VKHD can include rare oral symptoms like discolored teeth.
research A rare case of complete Vogt-Koyanagi-Harada disease presenting to a tertiary care hospital in late stage: Clinical features, diagnosis, and management
A young woman with late-stage Vogt-Koyanagi-Harada disease was successfully treated at a hospital.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research A woman with headaches and blurred vision
The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
research Dehydrogenase, Cortisol, Dopamine, Zinc, and Vitamin D3 in Iraqi Patients with Polycystic Ovary Syndrome
PCOS patients have higher LDH and lower cortisol, dopamine, zinc, and vitamin D3, which may contribute to their symptoms and obesity.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Editor's evaluation: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Structure and Expression of a New Complementary DNA Encoding the almost Exclusive 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4-lsomerase in Human Adrenals and Gonads
Human adrenals and gonads have a unique enzyme for steroid hormone production.
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
research HDAC6-dependent deacetylation of NGF dictates its ubiquitination and maintains primordial follicle dormancy
HDAC6 helps keep ovarian follicles dormant, extending female fertility.
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 A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research Expression of 11β-hydroxysteroid dehydrogenase type 1 in visceral and subcutaneous adipose tissues of patients with polycystic ovary syndrome is associated with adiposity
Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
research Adalimumab improves health-related quality of life (HRQoL) in patients with moderate to severe hidradenitis suppurativa (HS): Results from the first 12 weeks of PIONEER II
Adalimumab significantly improves quality of life for patients with moderate to severe hidradenitis suppurativa.