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.
Search
for
Sort by
Research
30 / 1000+ results 
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Understanding Cancer Cells of Origin in Cutaneous Tumors
The document concludes that identifying the specific cells where skin cancers begin is important for creating better prevention, detection, and treatment methods.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
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 The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Strategies for High-Efficiency Mutation Using the CRISPR/Cas System
Improving CRISPR/Cas systems can make gene editing more efficient and precise.
research Genome-based analysis of the genetic pattern of black sheep in Qira sheep
Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Protoporphyrin IX: the Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research A Clinical Approach to Severe Insulin Resistance
Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Disease Versus Disease: How One Disease May Ameliorate Another
Some diseases can improve the outcomes of other diseases, leading to new treatment possibilities.
research Integration of Biochemical and Mechanical Signals at the Nuclear Periphery: Impacts on Skin Development and Disease
The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research Therapeutics for COVID-19 and post COVID-19 complications: An update
New treatments for COVID-19 show promise, but more effective antiviral drugs are needed.
research Skin Development and Disease: A Molecular Perspective
Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
research Co-option of Hair Follicle Keratins into Amelogenesis Is Associated with the Evolution of Prismatic Enamel: A Hypothesis
Hair follicle keratin may have been used in tooth enamel evolution.
research p63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials
Targeting the p63 gene could help treat skin diseases.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research A genetically informed brain atlas for enhancing brain imaging genomics
GIANT improves brain imaging by using genetics to better map brain regions.
research Character, Genre, and Ethos in Nineteenth-Century British Drama
Nineteenth-century British drama closely reflected the era's societal values and concerns.
research Optimizing clinical monitoring and management guidelines for capivasertib in HR-positive/HER2-negative advanced breast cancer: expert opinion
Capivasertib improves survival in certain breast cancer cases but requires careful management of side effects.
research A transient dermal niche and dual epidermal programs underlie sweat gland development
Sweat gland development involves two unique skin cell programs and a temporary skin environment.
research Role of β-Catenin Activation Levels and Fluctuations in Controlling Cell Fate
Proper control of β-catenin activity is crucial for development and preventing diseases like cancer.
research Cell-Type-Specific Chromatin States Differentially Prime Squamous Cell Carcinoma Tumor-Initiating Cells for Epithelial to Mesenchymal Transition
Different types of skin cells have unique genetic markers that affect how likely they are to spread cancer.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research New insights into the functions of Cox-2 in skin and esophageal malignancies
Cox-2 significantly contributes to the development and progression of skin and esophageal cancers.