research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
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research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
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: reflections and hypotheses on aetiology and pathogenesis
FFA's causes may include environmental triggers and genetic factors.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPH mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor
Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Transcriptomes reveal microRNAs and mRNAs in different photoperiods influencing cashmere growth in goat
Different amounts of daylight affect cashmere growth in goats by changing the activity of certain genes and molecules.
research Use of genetics in the prediction of success in male pattern hair loss therapy and mechanistic studies
Genetics can help tailor treatments for male pattern hair loss, improving outcomes like stabilization or modest regrowth.
research Farmácia Militar do Laboratório Nacional do Medicamento, Porto e Serviços Farmacêuticos do Centro Hospitalar Universitário do Porto (Hospital de Santo António), EPE, Porto
Pharmacists play a crucial role in patient care and optimizing treatment outcomes.
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 Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research COVID-19: Understanding Inter-Individual Variability and Implications for Precision Medicine
The conclusion is that individual differences in COVID-19 severity are influenced by factors like age, sex, race, and genetics, which are important for personalized medicine.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research 130 Expression of nidogen1 in basal cell carcinoma
Higher levels of nidogen1 and type IV collagen are found in basal cell carcinoma compared to normal skin.
research 131 Mutational landscape of extramammary Paget disease
The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Type 2 Diabetes, Metabolic Syndrome and Lipid Metabolism
Type 2 diabetes in youth is increasing, with high treatment failure rates and more severe than Type 1; certain drugs can lower lipid levels effectively with varying side effects, and apples may benefit heart health like statins but with fewer side effects.
research The influence of interferon on healthy and diseased skin
Type I interferons play a key role in the development of various skin diseases.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Current Status of the Applications of Conditioned Media Derived from Mesenchymal Stem Cells for Regenerative Medicine
Conditioned media from mesenchymal stem cells show promise for tissue repair and disease treatment, but more research is needed on their safety and effectiveness.