research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
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600-630 / 1000+ results research Editor's Evaluation: Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness
Hairlessness in mammals is due to complex genetic changes in both genes and regulatory regions.
research Crystal Structure of Steroid Reductase SRD5A Reveals Conserved Steroid Reduction Mechanism
The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
research Functional Characterization of Soybean Strigolactone Biosynthesis and Signaling Genes in Arabidopsis MAX Mutants and GmMAX3 in Soybean Nodulation
GmMAX3b gene in soybeans boosts nodulation and affects hormone levels.
research Faces of the Face: Evolutionary Origins and Significance in Communication and Plastic Surgery
The document concludes that understanding the evolution of the human face helps cosmetic surgeons meet aesthetic desires.
research Increasing GSH-Px Activity and Activating Wnt Pathway Promote Fine Wool Growth in FGF5-Edited Sheep
Editing the FGF5 gene in sheep increases fine wool growth.
research Reshaped DNA Methylation Cooperating with Homoeolog-Divergent Expression Promotes Improved Root Traits in Synthesized Tetraploid Wheat
DNA changes in tetraploid wheat improve root growth and nitrogen use.
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Refractory Folliculitis Decalvans Treatment Success with a Novel Surgical Excision Approach Using Guarded High-Tension Sutures
A new surgical method using special sutures significantly reduced wound size and prevented disease return in patients with a scarring scalp condition.
research Antiviral Drugs Prolong Survival in Murine Recessive Dystrophic Epidermolysis Bullosa
Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
The study identified a novel missense mutation in the hairless (hr) gene, specifically a G to A transition at cDNA position 3034, resulting in a D1012N substitution, linked to congenital atrichia in a 17-year-old female with alopecia universalis congenita. This mutation was homozygous in the patient, heterozygous in her mother, and absent in her healthy sister, and was not found in 326 chromosomes from unrelated healthy individuals, indicating it was not a common polymorphism. The conserved nature of the D1012 residue across species suggested its functional importance, potentially disrupting the interaction between the hairless protein and the thyroid hormone receptor, contributing to hair loss. The study also noted a higher incidence of hr mutations in populations with high consanguinity rates and highlighted the variability in clinical presentation, as the patient did not exhibit some typical features of AUC. The research underscored the complexity of the hairless gene's role in hair loss disorders and the need for further studies to understand the variable phenotypic expressions of these mutations.
research Ultraviolet-Induced Red Fluorescence in Androgenetic Alopecia Indicating Alterations in Microbial Composition
Red fluorescence in AGA scalps is linked to different microbes.
research Skin Manifestations of Rheumatological Diseases
Skin changes are key for early diagnosis and treatment of rheumatic diseases.
research Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness
Hairlessness in mammals is caused by combined changes in genes and regulatory regions.
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 Derivation And Validation Of The Systemic Lupus International Collaborating Clinics Classification Criteria For Systemic Lupus Erythematosus
The new SLICC criteria for diagnosing lupus are more sensitive and accurate than the old criteria.
research OsPHR2 Is Involved in Phosphate-Starvation Signaling and Excessive Phosphate Accumulation in Shoots of Plants
OsPHR2 gene causes excessive phosphate in rice shoots, affecting plant growth and root development.
research Integrin Signaling Regulates YAP/TAZ to Control Skin Homeostasis
The study demonstrated that the transcription regulators YAP and TAZ were essential for maintaining skin homeostasis by promoting the proliferation of basal layer stem/progenitor cells. In both mouse and human skin, YAP and TAZ localized in the nucleus of basal layer cells, regulated by integrin-Src signaling. Deletion of YAP and TAZ in mice resulted in slowed cell proliferation, hair loss, and impaired wound healing, underscoring their role in skin regeneration. The research highlighted the importance of integrin-Src and EGFR-PI3K signaling pathways for YAP nuclear localization, which was crucial for cell cycle progression and growth. Additionally, YAP acted as a sensor of epithelial cell polarity, with its localization influenced by apical-basal polarity signals. These findings provided insights into the molecular mechanisms of skin renewal and the potential impact of YAP and TAZ on skin-related conditions and cancer.
research Transcriptome Profile at Different Physiological Stages Reveals Potential Mechanism for Curly Fleece in Chinese Tan Sheep
Genetic differences between young and old Tan sheep explain why their fleece changes from curly to straight as they age.
research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research The Mechanisms of Fur Development and Color Formation in American Mink Revealed Using Comparative Transcriptomics
The research found specific genes and pathways that control fur development and color in young American minks.
research Role of Sulfur Metabolism Gene and High-Sulfur Gene Expression in Wool Growth Regulation in the Cashmere Goat
Certain genes related to sulfur metabolism are more active during the growth phase of Cashmere goat wool, and melatonin might help this process.
research Homeostatic Control of Sebaceous Glands by Innate Lymphoid Cells Regulates Commensal Bacteria Equilibrium
Innate lymphoid cells help control skin bacteria by regulating sebaceous glands.
research Generation of Comparative Pharmacophoric Model for Steroidal 5α-Reductase I and II Inhibitors: A 3D-QSAR Study on 6-Azasteroids
The study created a model to help design new inhibitors for steroidal 5α-reductase enzymes.
research Epidermal PPARγ Is a Key Homeostatic Regulator of Cutaneous Inflammation and Barrier Function in Mouse Skin
PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.
research Analysis of Genome DNA Methylation at Inherited Coat Color Dilutions of Rex Rabbits
Inherited color dilution in rabbits is linked to DNA methylation changes.
research Epigenetic Mechanism of Gtl2-miRNAs Causes the Primitive Sheep Characteristics Found in Purebred Merino Sheep
A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research The Value of Trichoscopy in the Differential Diagnosis of Scalp Lesions in Pemphigus Vulgaris and Pemphigus Foliaceus
Trichoscopy helps tell apart scalp lesions in pemphigus vulgaris and pemphigus foliaceus and is useful for choosing biopsy locations.
research 3D-SeboSkin Model Application in Hidradenitis Suppurativa/Acne Inversa
The 3D-SeboSkin model effectively simulates Hidradenitis suppurativa and is useful for future research.