research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
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780-810 / 1000+ resultsresearch SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Sisaipho: A New Form of Presentation of Alopecia Areata
Researchers identified a new hair loss pattern called "sisaipho type," where hair is lost across the scalp except around the edges.
research Molecular insights into the formation of drug-polymer inclusion complex
The research shows how certain drugs can form stable structures with polymers, which is important for making new pharmaceuticals.
research SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure
Satoyoshi syndrome can occur without causing premature ovarian failure.
research IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY DEFICIENCIES
Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
research Distinct Developmental Functions of Prostasin (CAP1/PRSS8) Zymogen and Activated Prostasin
Prostasin has two roles in skin: one for normal skin development without needing activation, and another for proper hair growth that requires activation.
![Verification of the Major Metabolic Oxidation Path for the Naphthoyl Group in Chemoattractant Receptor-Homologous Molecule Expressed on Th2 Cells (CRTh2) Antagonist 2-(2-(1-Naphthoyl)-8-fluoro-3,4-dihydro-1H-pyrido[4,3-b]indol-5(2H)-yl)acetic Acid (Setipiprant/ACT-129968)](/images/research/d743d32f-3115-48ff-9697-2f2d56130701/small/14175.jpg)
research Verification of the Major Metabolic Oxidation Path for the Naphthoyl Group in Chemoattractant Receptor-Homologous Molecule Expressed on Th2 Cells (CRTh2) Antagonist 2-(2-(1-Naphthoyl)-8-fluoro-3,4-dihydro-1H-pyrido[4,3-b]indol-5(2H)-yl)acetic Acid (Setipiprant/ACT-129968)
The document confirms the structures of major metabolites of the CRTh2 antagonist Setipiprant and identifies minor metabolites.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Generating Skin‐Derived Precursor‐Like Cells From Human‐Induced Pluripotent Stem Cell‐Derived Skin Organoids
SKO-derived SKP-like cells may help with hair regeneration and skin restoration.
research Roles of steroid sulfatase in brain and other tissues
Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
research Isolation ofStaphylococcus simulansfrom Dermatitis in a Captive African Pygmy Hedgehog
Staphylococcus simulans may cause dermatitis in African pygmy hedgehogs.
research Protein-losing Enteropathy Exacerbated with the Appearance of Symptoms of Systemic Lupus Erythematosus.
Protein-losing enteropathy worsened with lupus symptoms but improved with prednisolone.
research 708 SIG-1451: A topical anti-inflammatory new chemical entity for atopic dermatitis (AD)
SIG-1451 could be a promising new treatment for atopic dermatitis.
research Tissue microarray를 이용한 사이모신 베타4(Thymosin β4)와 vascular endothelial cell growth factor (VEGF)의 정상 인간 조직 발현 양상 연구
Thymosin β4 and VEGF are important for organ function and may help with blood vessel formation.
research Septin4 promotes cell death in human colon cancer cells by interacting with BAX
Septin4 helps kill colon cancer cells by working with the protein BAX.
research An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research SnapshotDx Quiz: November 2017
Pemphigus vulgaris involves specific immune cells and B cells that produce antibodies causing skin blisters.
research An Autophagy-Related Kinase Is Essential for the Symbiotic Relationship between Phaseolus vulgaris and Both Rhizobia and Arbuscular Mycorrhizal Fungi
A specific enzyme is crucial for the bean plant's relationship with certain beneficial soil bacteria and fungi.
research The Lysosomal Protease Cathepsin L Is an Important Regulator of Keratinocyte and Melanocyte Differentiation During Hair Follicle Morphogenesis and Cycling
Cathepsin L is essential for normal hair growth and development.
research Cloning and Characterization of a Mouse Type I Hair Keratin cDNA
research Skin morphology of the mutant hairless USP mouse
Hairless USP mice have enlarged skin cysts as they age.
research A 4kb Fragment of the Desmocollin 3 Promoter Directs Reporter Gene Expression to Parakeratotic Epidermis and Primary Hair Follicles
A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
![Synthesis and Structural Characterization of a New Dinuclear Platinum(III) Complex, [Pt2Cl4(NH3)2{μ-HN=C(O)Bu^t}2]](/images/research/fcbeee85-f5bd-406e-936d-9134a0f200d4/small/36266.jpg)
research Synthesis and structural characterization of a new dinuclear platinum(III) complex, [Pt2Cl4(NH3)2{μ-HN=C(O)But}2]
A new platinum complex was made and studied, which might help fight cancer better.
research An unusual presentation of pilomatrixoma
A painless cheek lump was misdiagnosed but later identified as a rare benign skin lesion called pilomatrixoma.
research The secret identities of TMPRSS2: Fertility factor, virus trafficker, inflammation moderator, prostate protector and tumor suppressor
TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Caractérisation physique et chimique des substances à activité thérapeutique : application aux études de profil de stabilité et de préformulation
APIs' stability is influenced by crystalline forms, pressure, and water.