research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
Search
for
Sort by
Research
270-300 / 1000+ results
research 741 Identification of a specific subset of monocytes/macrophages that coordinates skin wound healing
A specific type of immune cells, called CD301b-expressing macrophages, are crucial for skin repair processes.
research Hair repigmentation in microcystic adnexal carcinoma
Hair repigmentation can indicate malignancy and should be investigated.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research Krox20 expression in abnormal scars: An immunohistochemical study
Krox20 overexpression in fibroblasts may play a role in abnormal scar formation and could be a target for new treatments.
research The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research Edematous striae distensae
The girl's swelling and skin issues improved with fluid restriction and diuretics.
research 2063-LB: Transgenic Erythropoietin Overexpression Inhibits Dermal Fat Formation and HIF1a in the Skin and Causes Telogen Effluvium in Mouse Pups during the First Hair Cycle
Erythropoietin overexpression disrupts hair growth and fat formation in mice.
research Oxygen, Metabolism, and Regeneration: Lessons from Mice
Mice with enhanced regeneration abilities may help develop new regenerative medicine therapies.
research Acromegaloid Facial Appearance: Case Report and Literature Review
The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
research Hepatic and dermatologic manifestations of chronic hypervitaminosis A in adults. Report of two cases
Too much vitamin A can cause liver damage and skin issues.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research Abstract 1677: Epithelial hyperplasia induced by a selective B-Raf inhibitor, WYE-130600
WYE-130600 may cause skin thickening and irritation.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research Hyperprogesteronismus infolge bilateraler Nebennierenrindenkarzinome bei einer Katze mit Diabetes mellitus
Adrenal tumors can cause high progesterone levels, mimicking symptoms of high cortisol.
research Histochemical evidence of mucosubstances in the metaplastic epidermis and hair follicles produced in vitro in the presence of excess vitamin A
Excess vitamin A changes skin and hair follicle development and affects polysaccharide distribution.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Iperplasia Collaterale Nella Oncogenesi Sperimentale Del Ratto: Rilievi in corso di trattamento con Vitamina A
Vitamin A treatment reduced abnormal cell growth and improved skin conditions in rats with tumors.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Cronkhite-Canada syndrome: case description
An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
research Glandular metaplasia of hair follicles and other responses to vitamin A excess in cultures of rodent skin
Excess vitamin A can cause hair follicles to change into gland-like structures.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
research Unusual Cause of Chronic Diarrhea: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
research “Cellularity as a predictive tool for mesenchymal stem cell concentration in bone marrow concentrates: Implications for regenerative medicine”
Cellularity can estimate mesenchymal stem cell concentration in bone marrow, aiding regenerative medicine.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.