research Selection signatures in goats reveal a novel deletion mutant underlying cashmere yield and diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
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research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Reconsidering the Polycystic Ovary Syndrome (PCOS)
PCOS should be reclassified into two types based on hormone levels and symptoms.
research Left-sided excess of melanoma occurrence but not of other skin cancers: Additional evidence
Melanoma occurs more on the left side of the body, unlike other skin cancers.
research Poster Exhibits
research Organoid‐Guided Precision Medicine: From Bench to Bedside
Organoid technology is improving personalized medicine by better predicting drug responses and treatments.
research TU55. EXPLORING THE GENOMIC RELATIONSHIP BETWEEN TWO MAJOR DETERMINANT PHENOTYPES OF PSYCHIATRIC DISORDERS: HUMAN GUT MICROBIOME AND SLEEP TRAITS
The research explores how gut bacteria and sleep patterns are related in mental health disorders.
research Effective holistic characterization of small molecule effects using heterogeneous biological networks
Integrating biological networks improves drug repurposing and ADR prediction.
research Exploring Diachronic Changes of Biomedical Knowledge using Distributed Concept Representations
The document concluded that biomedical knowledge changes over time and the study evaluated a new method to track these changes.
research ESDR303 – The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank
research Personalized character of transgender medicine as a barrier to development of evidence-based clinical practice guidelines on gender incongruence
Creating evidence-based guidelines for gender incongruence is difficult due to the personalized nature of transgender medicine.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Clinical Snippets
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research Philological Obfuscation
The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Differences in Perceptions of Beauty and Cosmetic Procedures Performed in Ethnic Patients
The cosmetic industry should adapt to the varied beauty standards of ethnic groups and offer specialized treatments.
research Editor's notes
The document could not be processed or understood.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research High-content drug screening for rare diseases
High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Medico-Legal Corner
The document's conclusion cannot be summarized because the content is not accessible or understandable.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Revolutionizing Hair Fall Analysis: The Advanced Precipitation U-Net Model
The Advanced Precipitation U-Net Model improves early hair fall detection with 92% accuracy.
research A transient dermal niche and dual epidermal programs underlie sweat gland development
Sweat gland development involves two unique skin cell programs and a temporary skin environment.
research Case reports and anecdotal evidence
Case reports are crucial for identifying new medical conditions and improving knowledge retention.
research Decision letter: ETS family transcriptional regulators drive chromatin dynamics and malignancy in squamous cell carcinomas
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
research The Role of Cognitions and Beliefs in Trichotillomania: A Qualitative Study Using Interpretative Phenomenological Analysis
Cognitions significantly influence Trichotillomania, suggesting cognitive therapies could help.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.