research Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
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30 / 1000+ results research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research Loss of Memo, a novel FGFR regulator, results in reduced lifespan
Losing Memo protein shortens lifespan and affects health.
research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Kallmann's syndrome: skeletal and psychological aspects of late diagnosis.
Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
research miR-29 is an important driver of aging-related phenotypes
miR-29 is a key factor that accelerates aging.
research Replicative stress, stem cells and aging
Maintaining DNA health in stem cells is key to preventing aging and tissue breakdown.
research Scalp Dysesthesia Related to Cervical Spine Disease
Most women with weird scalp feelings had neck spine problems, and some got better with gabapentin treatment.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Human skin stem cells and the ageing process
Skin aging is due to impaired stem cell mobilization or fewer responsive stem cells.
research Reversing wrinkled skin and hair loss in mice by restoring mitochondrial function
Restoring mitochondrial function in mice reversed their skin wrinkling and hair loss.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research Role of S-Palmitoylation by ZDHHC13 in Mitochondrial function and Metabolism in Liver
ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
research How to diagnose a lipodystrophy syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research Oral Manifestations of Hematologic and Nutritional Diseases
Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
research Endocrine-skin interactions
Hormone imbalances can cause specific skin changes, which may help in early detection of endocrine disorders.
research Transient mitochondrial DNA double strand breaks in mice cause accelerated aging phenotypes in a ROS-dependent but p53/p21-independent manner
Damaging mitochondrial DNA in mice speeds up aging due to increased reactive oxygen species, not through the p53/p21 pathway.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research New Biomarkers to Evaluate Hyperandrogenemic Women and Hypogonadal Men
The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
research Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research Menopause
The document concludes that individualized treatment and lifestyle changes are important for managing menopause symptoms and health risks.
research Assessment of Elderly's Nutritional status in Geriatric Homes at Al-Furat Al-Awusat Governorates
Many elderly in geriatric homes are overweight and need better nutrition management and education.
research Mucosal TLR5 activation controls healthspan and longevity
Activating TLR5 in the gut can extend lifespan and improve health in aged mice.