research Convergent Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
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research Clinical Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
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 Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research New Challenge to Cancer and Longevity
A group has developed therapies that show promise for treating cancer and various other conditions.
research Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Genome Scan for Signatures of Adaptive Evolution in Wild African Goat (Capra Nubiana)
Wild African goats have genetic adaptations for surviving harsh desert conditions.
research KIF18B Is a Cell-Type Specific Regulator of Spindle Orientation in the Epidermis
KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
research Downstream Molecular Responses to Volatile Signaling in Roots
Plant roots respond to fungus smells by possibly using certain proteins and a plant hormone to change root growth, but more research is needed.
research Specific Ectodermal Enhancers Control the Expression of Hoxc Genes in Developing Mammalian Integuments
The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
research Follicle Hormones
Follicle Stimulating Hormone is important for fertility.
research Perspectives of Alopecia Behind the Regulation of Foxn1 Gene Exposes the Human Nude Phenotype
The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
research References
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research A Homozygous Single T Deletion Found in the GGCX Gene with PXE-Like Phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research Contents Volume 231, 2015
The document covers various dermatological treatments and conditions.
research Australasian Society for Dermatology Research Meeting, May 2006
The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
research Registrars’ Symposium: Summaries of Papers
Lower adrenal hormone levels may cause hair loss in postmenopausal women, certain patterns help diagnose nail cancer, and a gene variant linked to higher skin cancer risk in kidney transplant patients suggests monitoring folate levels.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Inherited Hairlessness: A Case Study of Familial Congenital Atrichia
The document concludes that the girl's hairlessness is likely inherited from her parents.
research Impairment of Notch 1 Signaling Is a Common Defect in Lesions From Patients With Hidradenitis Suppurativa
Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
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 Whole Exome Sequencing in Alopecia Areata Patients Identifies a Hotspot Mutation in the Type II Hair Keratin Gene, KRT82
A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
research Non-Viral Delivery of the CRISPR/Cas System: DNA Versus RNA Versus RNP
RNA delivery is best for in-body use, while RNP delivery is good for outside-body use. Both methods are expected to greatly impact future treatments.