research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
Search
for
Sort by
Research
750-780 / 1000+ results
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 Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
Consider rare forms of CAH for accurate diagnosis and treatment.
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 case of loose anagen hair syndrome associated with trichotillomania in a 14-year-old girl
A 14-year-old girl with a condition that makes her hair easy to pull out also has a hair-pulling disorder, and treatment helped but she relapsed after a year.
research A 36-Year-Old Woman With an Unexpected Cause of Hypokalemia
A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Netherton Syndrome
A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research A patient with combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2
A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.
research Amyopathic dermatomyositis presenting as severe alopecia and prominent eyelid edema: a case report and literature review
Accurate diagnosis is crucial for effectively treating severe alopecia and related symptoms.
research Serum testosterone levels and clinical signs of hypogonadism in men with type 2 diabetes
Men with type 2 diabetes often have low testosterone and signs of hypogonadism, especially if they are overweight.
research Autoimmune polyglandular syndrome type 2, alopecia universalis and Crohn's disease
Managing multiple autoimmune diseases in one patient is extremely challenging.
research Antigen-Specific Regulatory T Cells and Low Dose of IL-2 in Treatment of Type 1 Diabetes
Using low-dose IL-2 to increase regulatory T cells might be a safe way to treat type 1 diabetes without severe side effects.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Dermatologic Manifestations of Mitochondrial Dysfunction: A Review of the Literature
Mitochondrial dysfunction is linked to various skin conditions and could be a target for treatments.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research What Syndrome Is This?
Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Pyodermatitis vegetans associated with multiple myeloma
A skin condition called pyodermatitis vegetans was found in a patient with multiple myeloma for the first time.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Hair-Specific Keratins: Characterization and Expression of a Mouse Type I Keratin Gene
research Refractory alopecia universalis associated with dermatomyositis successfully treated with tofacitinib
A medicine called tofacitinib worked to treat a hair loss condition linked with a muscle and skin disease.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research 0873 Modeling junctional epidermolysis bullosa using tissue-engineered skin substitutes
Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.