research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
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300-330 / 1000+ resultsresearch TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
research Rehabilitation therapy for a severe case of coronavirus disease 2019: a case report
Rehabilitation therapy helped a severe COVID-19 patient regain muscle mass and return to normal life.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report
Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Effects of Ionizing Radiation on Murine Gene Expression in Skin and Bone
Early changes in skin gene expression can predict later bone mass loss after radiation exposure.
research La confusion des pouvoirs
Calorie restriction boosts stem cell activity, improving tissue regeneration and lifespan.
research Mouse models with a disrupted PTHrP gene or a disrupted PTH gene (PTH−/− mice)
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
research Vitamin D: More Than a “Bone-a-Fide” Hormone
Vitamin D is important for bones, hair, blood pressure, and breast development.
research Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.
research A Novel Marker of Tissue Junctions, Collagen XXII
Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
research Regulatory T-Cells: Potential Regulator of Tissue Repair and Regeneration
Regulatory T-cells are important for healing and regenerating tissues in various organs by controlling immune responses and aiding stem cells.
research The Rise in Adrenal Androgen Biosynthesis: Adrenarche
Adrenarche increases adrenal androgens around age 6, affecting hair growth and development.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research The roles of Wnt/β‐catenin pathway in tissue development and regenerative medicine
The Wnt/β-catenin pathway is important for tissue development and has potential in regenerative medicine, but requires more research for therapeutic use.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
research The misogyny of iron deficiency
Iron deficiency in women is common, often overlooked, and needs better recognition and treatment.
research Wnt Signaling and Aging-Related Heart Disorders
Wnt signaling may be linked to heart diseases in aging and could be a target for future treatments.
research Evidence for Masculinization of Adipokine Gene Expression in Visceral and Subcutaneous Adipose Tissue of Obese Women With Polycystic Ovary Syndrome (PCOS)
Obese women with PCOS show a male-like pattern in certain fat tissue gene expressions.
research The Pharmacologic Treatment of Muscle Pain
The document concludes that more research is needed to understand how to treat muscle pain with drugs.
research Repairing the lungs one breath at a time: How dedicated or facultative are you?
Lung repair involves both dedicated and flexible stem cells, important for developing new treatments.
research Long-Term Bezafibrate Treatment Improves Skin and Spleen Phenotypes of the mtDNA Mutator Mouse
Bezafibrate treatment improved skin and spleen health in aging mice but didn't extend lifespan.
research Optimal skin regeneration after full thickness thermal burn injury in the spiny mouse, Acomys cahirinus
The spiny mouse can fully regenerate skin after burns, unlike the lab mouse.
research Role of stem/progenitor cells in reparative disorders
Adult stem cells are important for tissue repair and have therapeutic potential, but more research is needed to fully use them.
research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research EFFECTS OF ADRENOCORTICOTROPIC HORMONE ON BODY GROWTH, VISCERAL PROPORTIONS, AND WHITE BLOOD CELL COUNTS OF NORMAL AND HYPOPHYSECTOMIZED MALE RATS
Adrenocorticotropic hormone inhibits growth and affects body composition in male rats.
research The Androgen Receptor and Its Use in Biological Assays: Looking Toward Effect-Based Testing and Its Applications
Scientists have developed a new method to detect steroid abuse in athletes using cell-based tests, which could be the future of anti-doping methods.