research Nutrition and the deleterious side effects of nutritional supplements
Taking too many vitamin and mineral supplements can cause serious health problems.
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research Woolly hair generalizado: caso clínico e revisão da literatura
Woolly hair is a rare genetic condition with no effective treatments.
research Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling
Trps1 plays a key role in hair follicle development and cycling.
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.
research Odontogenic Keratocysts Arise from Quiescent Epithelial Rests and Are Associated with Deregulated Hedgehog Signaling in Mice and Humans
Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Coordinating the Sculptors: Ectodysplasin-A (EDA) Signaling Cross-Talk with Skeletogenic Pathways
EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
research Activated Kras Alters Epidermal Homeostasis of Mouse Skin, Resulting in Redundant Skin and Defective Hair Cycling
Activating Kras in mouse skin causes excess skin and hair loss.
research Mining and analysis of adverse event signals of isotretinoin based on the real-world data of FAERS database
Isotretinoin has many serious side effects, including some new ones, needing better safety measures and updated labels.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Bone morphogenetic protein-2 (BMP-2) transactivates Dlx3 through Smad1 and Smad4: alternative mode for Dlx3 induction in mouse keratinocytes
BMP-2 activates the Dlx3 gene in mouse skin cells, important for hair and skin development.
research Mice lacking the epidermal retinol dehydrogenases SDR16C5 and SDR16C6 display accelerated hair growth and enlarged meibomian glands
Mice without certain skin enzymes have faster hair growth and bigger eye glands.
research A Chemically Defined Culture for Tooth Reconstitution
A new culture system can grow tooth-like structures from dental cells but can't yet develop roots.
research Treatment of Hair Loss in the Trichorhinophalangeal Syndrome
Hair transplantation successfully treated hair loss in a patient with Trichorhinophalangeal syndrome.
research Skin regional specification and higher-order HoxC regulation
A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
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 ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome
Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
research Morphogenesis and Renewal of Hair Follicles from Adult Multipotent Stem Cells
Adult mouse skin contains stem cells that can create new hair, skin, and oil glands.
research Dermal fibroblast in cutaneous development and healing
Skin cells called dermal fibroblasts are important for skin growth, hair growth, and wound healing.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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 E-Poster
The document presents a wide range of medical case studies and research findings, focusing on various endocrine disorders and their management. Key highlights include a study on hyperprolactinemia with 50 participants, identifying drug use and prolactinoma as common causes, and emphasizing the ease of treatment once the cause is identified. Another study with 600 patients links non-alcoholic fatty liver disease to central obesity in type 2 diabetes mellitus patients. The document also discusses the importance of genetic testing in diagnosing rare conditions, such as a novel PHEX gene mutation in X-linked hypophosphatemia and a LEPR gene mutation causing monogenic obesity. Additionally, it reviews the effectiveness of treatments like DOTANOC PET/CT-guided radiofrequency ablation for tumor-induced osteomalacia and the use of capsaicin for diabetic neuropathy pain relief. The ONWARDS trials with 4,347 participants highlight the benefits of once-weekly insulin icodec in improving HbA1c levels. Overall, the document underscores the significance of early diagnosis, genetic analysis, and innovative treatment approaches in managing complex medical conditions.
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 Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research Hox genes in development and beyond
Hox genes are crucial for development and tissue maintenance, affecting structures and functions throughout life.
research Expression of Signaling Components in Embryonic Eyelid Epithelium
Eyelid cells share signaling components but differ in pathway activity.