research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
Search
for
Sort by
Research
480-510 / 1000+ results
research Severe Insulin Resistance in a Pediatric Patient: Key Areas to Address in the Screening
The case emphasizes the need for careful screening in children for insulin resistance and related conditions.
research Isolated Amylase Deficiency as a Cause of Failure to Thrive
Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
research The role of the ketogenic diet in managing polycystic ovary syndrome: A comprehensive review
The ketogenic diet may help manage PCOS symptoms but needs more research for long-term effects.
research [Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme].
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Cloning of the human phenol sulfotransferase gene family: three genes implicated in the metabolism of catecholamines, thyroid hormones and drugs
Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Type I Keratin 17 Protein Is Phosphorylated on Serine 44 by p90 Ribosomal Protein S6 Kinase 1 (RSK1) in a Growth- and Stress-dependent Fashion
Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
research Keratin 79 is a PPARA target that is highly expressed by liver damage
Keratin 79 is linked to liver damage and may help diagnose liver diseases.
research Alopecia Universalis with Frequently Relapsing Nephrotic Syndrome of Infantile Onset: A Rare Presentation
A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
research A Phase 3, Open-Label, Single-Arm Trial of the Efficacy and Safety of Triptorelin 6-Month Formulation in Chinese Children with Central Precocious Puberty
Triptorelin effectively treats central precocious puberty in Chinese children with minimal side effects.
research Lipoatrophy and severe metabolic disturbance in mice with fat-specific deletion of PPARγ
Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
research Congenital Adrenal Hyperplasia
Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
research Anticonvulsant hypocalcaemia.
Long-term use of seizure medications can disrupt calcium metabolism, but this can be treated with vitamin D or UV light and does not affect seizure control.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Case 5: A Very Tall 7-year-old Boy with Medulloblastoma
A 7-year-old boy with a brain tumor developed early puberty, which was successfully treated with medication.
research Overexpression of protein kinase C-α in the epidermis of transgenic mice results in striking alterations in phorbol ester-induced inflammation and COX-2, MIP-2 and TNF-α expression but not tumor promotion
Overexpressing PKCα in mice skin increases inflammation but doesn't affect tumor growth.
research Genetic alteration of cyclic adenosine 3',5'-monophosphate-dependent protein kinase subunit expression affects calcium currents and beta-endorphin release in AtT-20 clonal pituitary cells.
Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
research Effects of ketogenic diet on weight loss parameters among obese or overweight patients with polycystic ovary syndrome: a systematic review and meta-analysis of randomized controlled trails
A ketogenic diet helps reduce weight, BMI, waist size, and fat in overweight women with PCOS.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Pediatric adrenocortical carcinoma complicated by uric acid nephrolithiasis: a unique case report
Thorough evaluations and conservative management can lead to positive outcomes in pediatric adrenocortical carcinoma.
research Pyruvate Kinase M2 Role in Cardiovascular Repair
PKM2 is a promising target for heart repair and regeneration.
research PIGMENTATION AND HAIR GROWTH IN BLACK RATS, AS MODIFIED BY THE CHRONIC ADMINISTRATION OF THIOUREA, PHENYL THIOUREA AND ALPHA-NAPHTHYL THIOUREA1
Thiourea compounds affect hair growth and pigmentation in black rats.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Zinc deficiency during total parenteral nutrition in childhood
Long-term TPN in children can cause zinc deficiency, leading to health issues.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.