research Inherited epidermolysis bullosa: clinical and therapeutic aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
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research Sexually dimorphic sail feathers in the Mandarin duck as a model for lifelong developmental modulation
Mandarin duck sail feathers change with seasons due to hormones and genetic regulation.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Formation of the cornified envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Genome-wide Target Enrichment-aided Chip Design: a 66 K SNP Chip for Cashmere Goat
Researchers developed a cost-effective 66 K SNP chip for cashmere goats that is accurate and useful for genetic studies.
research Developmental Plasticity of Patterned and Regenerating Oral Organs
Fish teeth and taste bud densities are linked and can change between types due to shared genetic and molecular factors.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research RNA sequencing reveals lncRNA-mediated non-mendelian inheritance of feather growth change in chickens
Long non-coding RNAs affect feather growth in chickens in ways that don't follow traditional genetic rules.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Effects and Mechanism of Nutrients on Root Hair Growth
Nutrients and hormones affect root hair growth, but more research is needed to understand the genetic mechanisms.
research Stem Cell Heterogeneity and Plasticity in Epithelia
Different types of stem cells exist within individual skin layers, and they can adapt to damage, transplantation, or tumor growth. These cells are regulated by their environment and genetic factors. Tumor growth is driven by expanding, genetically altered cells, not long-lived mutant stem cells. There's evidence of cancer stem cells in skin tumors. Other cells, bacteria, and genetic factors help maintain balance and contribute to disease progression. A method for growing mini organs from single cells has been developed.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Transcriptome Profile at Different Physiological Stages Reveals Potential Mode 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 A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Hair follicle transcriptome profiles during the transition from anagen to catagen in Cashmere goat (Capra hircus)
The transition from growth to regression in Cashmere goat hair follicles involves changes in expression of genes related to keratin and cell differentiation.
research A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits
Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
research Discovery of differentially expressed genes in cashmere goat (Capra hircus) hair follicles by RNA sequencing
Researchers found 617 genes that behave differently in cashmere goat hair follicles, which could help understand hair growth.
research Genome-Wide Association Study for Body Conformation Traits in Kazakh Fat-Tailed Coarse-Wool Sheep
Genetic markers linked to sheep body traits were identified, aiding future breeding.
research Finding bald spots on chromosome 20p11
New genes linked to male pattern baldness were found on chromosome 20p11.
research Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals
The study found that in Latin America, ancestry varies by location, influences physical traits, and affects how people perceive their own heritage.
research GABRA2 Alleles Moderate the Subjective Effects of Alcohol, Which are Attenuated by Finasteride
GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
research The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
A mutation in the KRT75 gene causes frizzle feathers in chickens.
research Chronic overlapping pain conditions and nociplastic pain
Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
research New case of trichorinophalangeal 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 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.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study mapped genetic variations in sheep, linking them to traits like milk production and growth.
research Regulation of masculinization: androgen signalling for external genitalia development
Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
research The molecular pathogenesis of Trichilemmal carcinoma
Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.
research Drivers of plateau adaptability in cashmere goats revealed by genomic and transcriptomic analyses
The study found that genetic differences related to hair growth and other traits help cashmere goats adapt to high-altitude environments.