research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
Search
for
Sort by
Research
540-570 / 1000+ resultsresearch Evaluation of Biological Activity Exerted by an Aza-bicyclocarboxylic acid Derivative using Anischemia-Reperfusion Injury Model
Compound 3 protects the heart from damage by activating A1-adenosine receptors.
research Diagnosis Alopesia Areata Pada Anak: Kasus Serial
Accurate diagnosis and understanding of alopecia areata in children are crucial for proper treatment.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research BH16 Central centrifugal cicatricial alopecia and fibroproliferative disorders: exploring the association with uterine leiomyomas
Black women with CCCA are more likely to have uterine fibroids.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Carotid Intima-Media thickness (C-IMT) in androgenic alopecia patient
Women with androgenic alopecia may have a higher risk of artery problems.
research Patchy presentation of central centrifugal cicatricial alopecia
CCCA can appear as patchy hair loss in younger men, not just the usual pattern.
research Clinical Findings, Response to Steroid Treatment, and Recurrence Rate in Alopecia Areata Patients with or without a Nonsynonymous Variant of Coiled-Coil Alpha-Helical Rod Protein 1
Patients with a specific genetic variant have more severe alopecia areata and higher recurrence rates.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Cardiovascular risk factors and co-morbidities in patients with Alopecia Areata: A case-control study
People with Alopecia Areata have a higher risk of heart-related health issues.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
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 A retrospective chart review of central centrifugal cicatricial alopecia patients at a single urban institution
Most patients with Central Centrifugal Cicatricial Alopecia at the reviewed institution were middle-aged Black women, often with no symptoms, and commonly treated with topical medications.
research OP-043 Quality of Life After Endovascular Repair Versus Open Surgery for Abdominal Aortic Aneurysms
Endovascular repair and open surgery for abdominal aortic aneurysms both result in a temporary decline in physical health, with no significant mental health difference, and a return to near normal health in 90 days.
research ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT
No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Acute Diffuse and Total Alopecia of the Female Scalp: A New Subtype of Diffuse Alopecia areata That Has a Favorable Prognosis – A Reply
The condition called 'acute diffuse and total alopecia of the female scalp' is actually a known condition named alopecia areata incognita.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis
A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
research Assessment of Vascular Circulation in Alopecia Areata Using the FMSF Technique
Women with alopecia areata have poor blood flow, possibly due to nerve inflammation.
research Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening
Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
research Alopecia in Cronkhite-Canada syndrome
Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Evaluation of Retinal Layers and Choroidal Structures Using Optical Coherence Tomography in Alopecia Areata
People with alopecia areata have similar retinal structures but thicker choroidal regions compared to those without the condition.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Alopecia Areata: A tissue specific autoimmune disease of the hair follicle
Alopecia areata is an autoimmune condition causing hair loss due to the immune system attacking hair follicles, often influenced by genetics and stress.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.