research Syndecan-1 Is Required to Maintain Intradermal Fat and Prevent Cold Stress
Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
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210-240 / 1000+ resultsresearch Visual Diagnosis
A girl with Crohn's disease had a hairball causing bowel obstruction, which was removed, and she recovered well.
research 712 Using scanning electron microscopy to elucidate the role of hair shaft malformation in the pathogenesis of Central Centrifugal Cicatricial Alopecia
Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
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 Dissecting Cellulitis of the Scalp
Dissecting cellulitis of the scalp is a condition that causes inflammation and scarring on the scalp, mainly affecting African-American men, and can lead to permanent hair loss.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses
Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research New-Onset Gastrointestinal Polyposis
A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
research Central Centrifugal Cicatricial Alopecia Associated With PDL1 Loss and Increased Expression of Caspase 3: A Case Series
CCCA may involve the PD1/PDL1 pathway and increased caspase 3, leading to permanent hair loss.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome often have skin issues and need regular check-ups for early treatment.
research CLK1 and its Effects on Skin Stem Cell Differentiation
CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research 559 Induction of tissue-specific premature stem cell aging promotes senescence-like phenotypes in remote multiple organs
Aging in one type of stem cell can cause aging-like changes in various organs.
research Extra-Intestinal Manifestation of Celiac Disease in Children
Early diagnosis and a strict gluten-free diet are crucial for children with celiac disease to improve symptoms.
research CD98hc (SLC3A2) regulation of skin homeostasis wanes with age
CD98hc's role in skin health decreases with age.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research Novel Insights into TSC22D Family Genes in Metabolic Diseases and Cancer
TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.
research Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research 1397 LSD1 is critical for epidermal development and skin barrier formation
LSD1 is essential for healthy skin development and creating the skin's protective barrier.