research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
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research Hyperandrogenism insulin resistance-acanthosis nigricans syndrome in a female adolescent with migraine: A case report
Early diagnosis and treatment of endocrine disorders like HAIR-AN syndrome can improve outcomes in adolescents.
research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
research AMINOGENIC ALOPECIA LOSS OF HAIR ASSOCIATED WITH ARGININOSUCCINIC ACIDURIA
Argininosuccinic aciduria can cause hair loss.
research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research Surgery of Kerion, a Nightmare for Nondermatologists
Misdiagnosing kerion as a bacterial infection can lead to unnecessary surgery and permanent hair loss.
research Dermatological Issues in a Child with Diabetes Mellitus
Children with diabetes often have skin problems, which can be better managed with good blood sugar control.
research Hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis
HLA can be linked to autoimmune hepatitis.
research LB1028 Spontaneous keloid eruption in a patient on dialysis
Spontaneous keloids may be linked to nephrogenic systemic fibrosis in dialysis patients.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency
Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
research SAT-435 When The Cure Becomes The Cause: Adrenal Insufficiency In Cushing’s Management
Careful dosing and monitoring are crucial to prevent adrenal insufficiency when using ketoconazole for Cushing's disease.
research Higher Levels of Hair Ethyl Glucuronide in Patients with Decreased Kidney Function
People with decreased kidney function have higher levels of ethyl glucuronide in their hair.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Roux-en-Y gastric bypass in the treatment of non-classic congenital adrenal hyperplasia due to 11-hydroxylase deficiency
Gastric bypass surgery improved a woman's hormonal disorder without the need for medication.
research Glucose-Activated Nanoreactor Initiating Cascade Reaction to Remodel Immune Microenvironment for Promoting Diabetic Wound Healing
MCP@G improves diabetic wound healing by reducing stress and promoting tissue repair.
research Multimodal therapeutic approach for a severe case of kaposiform lymphangiomatosis from procedural interventions to targeted therapies
Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
research Characteristics of Men Who Report Persistent Sexual Symptoms After Finasteride Use for Hair Loss
Finasteride for hair loss may cause persistent sexual symptoms, depression, anxiety, and lower quality of life.
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 Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
A man had two rare autoimmune diseases that might be connected.
research MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
research Wanita 28 Tahun dengan Hyperprolactinemia dan Hubungan terhadap Policystic Ovary Syndrome
Treating hyperprolactinemia can help manage PCOS symptoms.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.