research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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180-210 / 1000+ resultsresearch 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 Role of the SOX family in cancer immune evasion: Emerging player and promising therapeutic opportunities
Targeting SOX proteins may improve cancer treatment by restoring immune function.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research The role of WNT10B in physiology and disease: A 10-year update
WNT10B is important for body functions and linked to diseases like osteoporosis, obesity, and cancer.
research Adrenal and Gonadal Activity, Androgen Concentrations, and Adult Height Outcomes in Boys With Silver-Russell Syndrome
Higher androgen levels during puberty are linked to shorter adult height in boys with Silver-Russell syndrome.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research British Association of Dermatologists guidelines on the efficacy and use of acitretin in dermatology
Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
research Emerging 3D bioprinting applications in plastic surgery
3D bioprinting in plastic surgery could lead to personalized grafts and fewer complications.
research Rejuvenation: an integrated approach to regenerative medicine
Rejuvenating self-repair mechanisms could improve organ recovery in regenerative medicine.
research Limb amputations; etiopathogenesis, diagnosis and the multidisciplinary therapeutic approach
Reducing accidents and treating vascular diseases can lower the need for life-impacting amputations.
research Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report
A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
research In vivo function of VDR in gene expression-VDR knock-out mice
Vitamin D receptor is crucial for bone health and mineral metabolism.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Effect of injectable calcium alginate-amelogenin hydrogel on macrophage polarization and promotion of jaw bone osteogenesis
The hydrogel helps bone growth and healing in jaw and facial defects.
research Hox genes in development and beyond
Hox genes are crucial for development and tissue maintenance, affecting structures and functions throughout life.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Developmentally regulated expression of integrin alpha-6 distinguishes neural crest derivatives in the skin
Integrin α6 helps identify different neural crest cell types in the skin.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Efficacy and Safety of Topical Tofacitinib for the Treatment of Alopecia Areata
Topical tofacitinib is effective and safe for treating alopecia areata.
research Exploring Acne Treatments: From Pathophysiological Mechanisms to Emerging Therapies
Personalized acne treatments and new therapies show promise for better results.
research Role of FGFR2-signaling in the pathogenesis of acne
Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
research Hormonal Therapies for Individuals with Intersex Conditions
research Progenitor Cell Dysfunctions Underlie Some Diabetic Complications
Diabetes causes lasting cell dysfunctions, leading to serious complications even after blood sugar is controlled.
research Biomaterial-based mechanical regulation facilitates scarless wound healing with functional skin appendage regeneration
Biomaterials can help heal wounds without scars and regenerate skin features.
research Cutaneous Retinoic Acid Levels Determine Hair Follicle Development and Downgrowth
The right amount of retinoic acid is essential for normal hair growth and development.
research The role of platelet-rich plasma in biomedicine: A comprehensive overview
PRP helps tissue repair but lacks standard preparation methods.
research Male infertility and genitourinary birth defects: there is more than meets the eye
Male infertility and genitourinary birth defects are often linked to genetic issues.