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.
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270-300 / 1000+ resultsresearch Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Molecular landscape of lung cancer: insights into therapeutic targets and clinical outcomes
New treatments targeting genetic mutations in lung cancer are needed for better outcomes.
research Overlapping features of atopic dermatitis and alopecia areata: from pathogenesis to treatment
Atopic dermatitis and alopecia areata share immune and genetic factors, and targeted therapies may help both.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Modeling animal genomics in mice: An authentic approach for the functional interrogation of evolutionarily and agriculturally critical variants
Mouse models are essential for studying and improving genetic traits in agriculture.
research Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research What's new in the pathogeneses and triggering factors of bullous pemphigoid
Bullous pemphigoid is influenced by genetic factors, immune cell dysfunction, aging, and triggers, with treatment often improving symptoms.
research Aging in the sebaceous gland
Sebaceous glands age due to genetic and environmental factors, affecting sebum production and composition.
research Viewpoint 4
Skin patterns form through molecular signals and genetic factors, affecting healing and dermatology.
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research The legacy of Bruce Ames and mitochondrial DNA mutagenicity: integrating oxidative stress, aging, and modern perspectives
Bruce Ames's work has greatly influenced research on genetics, aging, and health, inspiring ongoing studies on mitochondria and longevity.
research Hair Loss: Pathogenesis and Prevention: A Literature Review
Hair loss is caused by genetics, hormones, stress, and environment, and can be managed with good nutrition, stress control, and treatments.
research Updates in Treatment for Androgenetic Alopecia
New treatments for hair loss include low-dose oral minoxidil, light therapy, and innovative therapies targeting hair growth mechanisms.
research Male androgenetic alopecia
Male pattern baldness is mainly caused by genetics and hormones, treatable with minoxidil and finasteride.
research Autoimmune skin disease pathogenesis: a chronological immune cascade and multi-hit model
Autoimmune skin diseases result from genetic and environmental factors disrupting immune checkpoints.
research The Biology and Genomics of Human Hair Follicles: A Focus on Androgenetic Alopecia
Hair loss in Androgenetic Alopecia is caused by genetics, aging, and lifestyle, leading to hair follicle shrinkage and related health risks.
research Current understanding of androgenetic alopecia. Part I: etiopathogenesis.
Androgenetic alopecia is common hair loss due to genetics and DHT.
research Hair Follicle Stem Cell Faith Is Dependent on Chromatin Remodeling Capacity Following Low-Dose Radiation
Low-dose radiation affects hair stem cell function and survival by changing their genetic material's structure.
research Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1
Minoxidil improved hair growth in a child with a rare genetic disorder.
research Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations
Botanical extracts can help treat hair loss in people with certain genetic conditions.
research SnapshotDx Quiz: August 2019
The research found that male pattern hair loss is mostly genetic and involves hair thinning due to hormonal effects and changes in gene expression.
research RNA sequencing reveals lncRNA-mediated non-mendelian inheritance of feather growth change in chickens
Long non-coding RNAs affect feather growth in chickens in ways that don't follow traditional genetic rules.
research Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.