research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
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750-780 / 1000+ results research Heterozygous COL5A1 deletion in a cat with classical
research Protein Microarrays
Protein microarrays are highly sensitive tools useful for disease diagnosis and studying proteins.
research In search of a universal and objective method to assess facial aging: The new face objective photo-numerical assessment scale
The facial aging scale is a reliable tool for assessing skin aging and treatment effects.
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 Diagnostic, Therapeutic, and Theranostic Multifunctional Microneedles
Microneedles are becoming essential tools in medicine for sensing, drug delivery, and communication.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Selection signatures of wool color in Gangba sheep revealed by genome-wide SNP discovery
Wool color in Gangba sheep is influenced by multiple genes and genetic mechanisms.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Predicting Human Appearance from DNA for Forensic Investigations
DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
The ASIP gene is crucial for determining cattle coat color.
research Genome wide association analysis of root hair traits in rice reveals novel genomic regions controlling epidermal cell differentiation
Scientists found new genetic areas that affect how rice root hairs grow and develop.
research Interactive analysis of single-cell trajectories in 3D space with Cell Journey
Cell Journey is a tool for better 3D visualization of cell changes over time.
research Synopsis: 2005 Annual Meeting of the American Society of Andrology
The meeting highlighted promising genetic treatments for male fertility issues but noted concerns about certain cancer risks and ICSI safety.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Letter from the editor: Making sense of central centrifugal cicatricial alopecia
Diagnosing and treating CCCA requires understanding multiple causes and using various diagnostic tools.
research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Editorial overview: Embroidering the canvas of life
The document emphasizes the importance of ongoing research and ethical considerations in genome editing and cellular reprogramming.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research The molecular pathogenesis of Trichilemmal carcinoma
Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.
research Dermoscopic findings in female androgenetic alopecia
Dermoscopy effectively diagnoses and evaluates female hair loss treatment.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Frontal Fibrosing Alopecia Quality of Life Index: A Validated Disease-Specific Questionnaire Involving Women
The FFA-QLI is a reliable tool for assessing quality of life in women with severe Frontal Fibrosing Alopecia.
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.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.