research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
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540-570 / 1000+ resultsresearch Is alopecia areata one of the atopic diseases? A two‐sample Mendelian randomization analysis
Alopecia areata may be linked to atopic diseases like eczema, asthma, and allergies.
research Tissue and Circulating MicroRNA Co-expression Analysis Shows Potential Involvement of miRNAs in the Pathobiology of Frontal Fibrosing Alopecia
Certain microRNAs might help identify and understand Frontal Fibrosing Alopecia.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Stress-sensing in the human greying hair follicle: Ataxia Telangiectasia Mutated (ATM) depletion in hair bulb melanocytes in canities-prone scalp
Hair greying is linked to reduced ATM protein in hair cells, which protects against stress and damage.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
Fragile hair in children is rarely linked to trichothiodystrophy (TTD).
research TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Rapidly Progressive Alopecia Universalis after Varicella-Zoster Virus Infection: The role of Immune Dysregulation and Tofacitinib treatment
Tofacitinib effectively regrows hair in alopecia universalis triggered by a virus.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research Safety Assessment of Ritlecitinib Based on the FDA Adverse Event Reporting System (FAERS ) Database: A Real‐World Pharmacovigilance Study
Ritlecitinib has common side effects like headache and acne, and unexpected ones like diabetes and thyroid issues.
research 051 γδ T cells as novel players in alopecia areata pathobiology: Vδ1 + T lymphocytes may recognize “stressed” hair follicle keratinocytes, leading to IFNγ-dependent hair follicle dystrophy and immune privilege collapse
Targeting specific T cells may help treat alopecia areata.
research Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+ T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
Thymic transplantation normalized some T-cells but not others, maintaining immune function.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Red Blood Cells Folate Level in Patients with Alopecia Areata
Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
research ACKR2 limits skin fibrosis and hair loss through IFN‐β
ACKR2 helps prevent skin scarring and hair loss by controlling inflammation.
research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Male-Pattern Baldness Is Common in Men with X-Linked Recessive Ichthyosis
Men with X-linked recessive ichthyosis often experience male-pattern baldness.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research The human keratins: biology and pathology
Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
research Critical Analysis on Characterization, Systemic Effect, and Therapeutic Potential of Beta-Sitosterol: A Plant-Derived Orphan Phytosterol
Beta-sitosterol has potential health benefits but needs more research to fully understand its effects and improve its use in treatments.
research An Ecologic Study of Disparities in COVID-19 Incidence and Case Fatality in Oakland County, MI, USA, During a State-Mandated Shutdown
COVID-19 affected Black communities more in Oakland County, MI, but didn't increase death rates.