research A second KRT 71 allele in curly coated dogs
A new gene variant causes curly coats in some dog breeds.
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research MEGA PROTAC, MEGA DOCK-based PROTAC mediated ternary complex formation pipeline with sequential filtering and rank aggregation
MEGA PROTAC improves prediction and ranking of protein complexes better than existing methods.
research Targeting noncanonical nuclear factor kappa B signalling in CYLD cutaneous syndrome by selective inhibition of IκB kinase alpha
Topical IKKα inhibitors may help prevent CCS tumours.
research Pitfalls of PCR-Based Strategy for Genotyping Cre-Loxp Mice
PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Molecular Evolution and Protein Structure Variation of Dkk Family
Dkk genes evolved faster in birds and reptiles, affecting hair development functions.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart
Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
research Stability Studies on L-Ascorbic Acid dl-α-Tocopherol Phosphoric Acid Diester Potassium Salt (EPC-K)
EPC-K is stable except at very acidic pH or when exposed to sunlight, and it can decompose in low ethanol concentrations.
research A use-and-transformation model for evaluating public R&D: Illustrations from polycystic ovarian syndrome (PCOS) research
The document suggests a new model for evaluating public research that better captures the full value of knowledge creation and use, using PCOS research as an example.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research 507 Trial to investigate the role of ATP-sensitive potassium channels (KATPc) in dermal papilla cells (DPCs)
ATP-sensitive potassium channels are important for hair growth.
research Identification of the keratin-associated protein 13-3 (KAP13-3) gene in sheep
The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.
research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
research Pyruvate Kinase M2 Role in Cardiovascular Repair
PKM2 is a promising target for heart repair and regeneration.
research An Expert System for Clinical Risk Assessment of Polycystic Ovary Syndrome under Uncertainty
The document concludes that the new expert system can assess the risk of PCOS effectively despite uncertainties in diagnosis.
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse
research Genetic variation in the ovine KAP22-1 gene and its effect on wool traits in Egyptian sheep
Certain genetic changes in the KAP22-1 gene are linked to better wool quality in Egyptian sheep.
research KRASG12D mutant cells are outcompeted by wild type neighbours in adult pancreas in an EPHA2-dependent manner
Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.
research OsUEV1B, an Ubc enzyme variant protein, is required for phosphate homeostasis in rice
OsUEV1B protein is essential for controlling phosphate levels in rice.
research Wool fiber curvature is correlated with abundance of K38 and specific keratin‐associated proteins
Wool fiber curliness is linked to the presence of certain proteins and K38.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research DKK4 as a novel candidate marker for Zhexi Angora rabbit wool quality
DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
research sc-eQTL unveil immunogenetic architecture of polycystic ovary syndrome
PCOS involves immune and genetic factors, with key roles for T cells and specific genes.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.