7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
4 citations
,
June 2013 in “The Journal of Rheumatology” The document concludes that various findings in rheumatology offer insights into disease severity, treatment responses, and potential risks in medication, with some limitations due to unspecified participant numbers.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
2 citations
,
July 2014 in “Irish Journal of Medical Science” The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
1 citations
,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
December 2023 in “EPRA international journal of multidisciplinary research” Alopecia areata causes sudden hair loss, has genetic links, and can be managed but not cured.
September 2023 Botulinum toxin type A significantly reduces scalp psoriasis severity compared to placebo.
April 2023 in “Curēus” A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
April 2023 in “Medizinische Genetik” New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.
January 2017 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
September 2019 The document is a detailed guide on skin conditions and treatments for dermatologists.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
June 2024 in “Bioactive Materials” New treatment using engineered nanovesicles in hydrogel improves hair growth by repairing hair follicle cells in a mouse model of hair loss.
July 2022 in “New Zealand journal of agricultural research” The KRTAP27-1 gene variations in sheep may affect wool length and weight.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
318 citations
,
January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
317 citations
,
September 2018 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
234 citations
,
November 2009 in “American journal of human genetics” Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
15 citations
,
November 2020 in “Physiological reports” Sox6 is important in heart and kidney health, affecting diseases like diabetes, heart disease, and high blood pressure.
13 citations
,
November 2021 in “Biomedicines” Plasma-activated liquid can kill harmful cells, speed up wound healing, and potentially treat cancer without damaging healthy cells.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
8 citations
,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
8 citations
,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
5 citations
,
November 2022 in “Animal Genetics” Genomic research can help improve the quality and production of natural fibers in animals.