research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
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research Therapeutic targeting of ocular diseases with emphasis on PI3K/Akt, and OPRL pathways by Hedera helix L. saponins: a new approach for the treatment of Pseudomonas aeruginosa-induced bacterial keratitis
PEVIII is a promising treatment for Pseudomonas aeruginosa keratitis.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Association of Single Nucleotide Polymorphisms in the CYP19A1 Gene with Female Pattern Hair Loss in a Chinese Population
Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research Lateral plate mesoderm directs human amnion and ventral skin organoid formation
Lateral plate mesoderm helps create skin and amnion-like tissues for studying development and therapies.
research Transcriptome and proteome characterization of surface ectoderm cells differentiated from human iPSCs
Blocking TGFβ-RI signaling enhances surface ectoderm differentiation from human stem cells.
research DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
Genetic testing can diagnose hair loss linked to DSG4 gene variants.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research 3D spheroid culture synchronizes heterogeneous MSCs into an immunomodulatory phenotype with enhanced anti-inflammatory effects
3D spheroid culture makes stem cells better at reducing inflammation.
research Cloning of a putative keratin-associated protein cDNA expressed in various mouse tissues other than hair follicles
Keratin-associated proteins may have roles in various mouse tissues, not just hair.
research Sdr16c5 and Sdr16c6 control a dormant pathway at a bifurcation point between meibogenesis and sebogenesis
Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
research Epidermal–dermal coupled spheroids are important for tissue pattern regeneration in reconstituted skin explant cultures
Skin spheroids with both outer and inner layers are key for regrowing skin patterns and hair.
research Diphenyl cresyl phosphate [MAK Value Documentations, 2003]
Diphenyl cresyl phosphate has low toxicity but can harm the liver, kidneys, adrenal glands, and testicles at high doses.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Abstract C4: Sp2: A regulator of stem cell differentiation and tumorigenesis
Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
research 1372 Modulation of YBX1 phosphorylation determines epidermal stem cell function
Changing YBX1 protein activity affects skin stem cell function and aging.
research CYP3A5 Polymorphism in Circulating Tumor Cells Confers an Increased Disease-Free Survival in DLBCL Patients Treated with R-CHOP
A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
research Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium
Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Effect of Incubation with Dimethyl Sulfoxide on the Mitotic Cycle of Cell Culture of Rabbit Dermal Papilla
A 5% DMSO and 5% BSA mix best preserves rabbit dermal papilla cells during cryopreservation.
research LB922 CyTOF immune profiling uncovers sex- and race-specific differences and cellular biomarkers for biologic response in Hidradenitis suppurativa
Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
research 259 Immunohistochemical insight into the association between the collapse of immune privilege in the sweat gland and syringotropic immune cell infiltrates in collagen diseases
The study found that sweat glands normally suppress immune responses, but this is disrupted in certain skin diseases, possibly contributing to their development.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Polypoid Cystitis and Bilateral Hydronephrosis Mimicking Urothelial Carcinoma
Polypoid cystitis can mimic bladder cancer but can be effectively treated with surgery, stents, and medication.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Sphingolipid metabolism orchestrates the establishment of the adult hair follicle stem cell niche to control skin homeostasis
A specific enzyme is essential for proper hair follicle stem cell development and healthy skin.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research DataSheet4_BBS7–SHH Signaling Activity Regulates Primary Cilia for Periodontal Homeostasis.csv
BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.