research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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930-960 / 1000+ results research An Efficient Approach for β-Cyclodextrin Production from Raw Ginkgo Seed Powder Through High-Temperature Gelatinization and Enzymatic Conversion
High-temperature gelatinization of ginkgo seeds effectively increases β-cyclodextrin production.
research 237 Unveiling Skin Cancers Pathophysiology via the Modeling of Xeroderma Pigmentosum Disease Modeling Using CRISPR-Cas9 Technology
Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
research Stauntonia hexaphylla Extract Ameliorates Androgenic Alopecia by Inhibiting Androgen Signaling in Testosterone-induced Alopecia Mice
Stauntonia hexaphylla extract can help treat hair loss by blocking certain hormones.
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 Are STK11 polymorphisms a predictor of the response to metformin in polycystic ovarian syndrome?
STK11 gene variations do not predict how well metformin will work for PCOS, but may affect hair loss and excess hair growth.
research Possible Carbamazepine-Induced Reversible Onychomadesis
Carbamazepine may cause reversible nail detachment.
research EFFECTS OF HUMAN HAIR KERATIN ALKYLATION ON GROWTH FACTOR DELIVERY AND CELLULAR RESPONSE: IMPLICATIONS IN BONE REGENERATION
Alkylated keratin from human hair can help deliver growth factors for bone healing.
research Adverse Events Associated with Azathioprine Treatment in Korean Pediatric Inflammatory Bowel Disease Patients
Azathioprine caused side effects in over half of the Korean pediatric inflammatory bowel disease patients, requiring close monitoring.
research 726 The Wnt-inhibitor Dkk4 is required for primary hair follicle induction and patterning
Dkk4 is necessary for the initial development and arrangement of hair follicles.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Kinetic analysis of LY320236: competitive inhibitor of type I and non-competitive inhibitor of type II human steroid 5α-reductase
LY320236 is a strong blocker of two enzymes that change testosterone into dihydrotestosterone and might help treat conditions related to male hormones.
research The functions of ocu-miR-205 in regulating hair follicle development in Rex rabbits
Ocu-miR-205 affects hair density in Rex rabbits by promoting cell changes and influencing hair follicle phases.
research Preparation and Properties of Human Hair Keratin Film Lacking Keratin-Associated Proteins
The new keratin film without KAPs stains better and could help study keratin functions.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research Development, Structure, and Keratin Expression in C57BL/6J Mouse Eccrine Glands
The study found that mouse sweat glands develop before birth, mature after birth, and have specific keratin patterns.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research Glibenclamide reverses cromakalim-induced anti-ischemic effect in conscious rabbits
research 69-Year-Old Man With Nasal Congestion and Pre-Syncope
A 69-year-old man with sinus infection and fainting spells was diagnosed with a rare kidney disease, treated with steroids and a specific drug, which improved his condition.
research Identification of a secreted BMP antagonist, ectodin, integrating BMP, FGF, and SHH signals from the tooth enamel knot
Ectodin integrates BMP, SHH, and FGF signals in developing ectodermal organs.
research A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research The Independent Internet Marketing Site: A Symbiotic Confederation?
The document's conclusion cannot be provided because the document is not accessible or understandable.
research Ectoderm-Targeted Overexpression of the Glucocorticoid Receptor Induces Hypohidrotic Ectodermal Dysplasia
Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
research 23 Studies of the Biochemical Basis of Kinky Hair Disease
research The New Keratin Nomenclature
The keratin naming system was updated to include 54 genes, especially for hair-related keratins.
research Apoptosis and keratin intermediate filaments
research G4, is a new transgenic mouse model for the polycystic ovaries syndrome
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
research Editor's notes
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research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.