November 2023 in “Children” Many pediatric epilepsy patients experience preventable severe adverse drug reactions, especially with certain medications and risk factors.
28 citations,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
[object Object] July 2023 in “Assiut Veterinary Medical Journal/Maǧallaẗ Asyūṭ al-ṭibiyyaẗ al-baytariyyaẗ” Antiandrogens help improve developmental delays caused by valproic acid in rats.
8 citations,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
15 citations,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
198 citations,
June 2013 in “Molecular psychiatry” Schizophrenia patients' stem cells show abnormal neuron development and mitochondrial issues.
August 2021 in “Journal of medical science and clinical research” An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
3 citations,
June 2017 in “Environmental health perspectives” Exposure to certain glycol ethers during pregnancy may be linked to lower verbal comprehension in children.
July 2023 in “Dermatology practical & conceptual” Women with Female Pattern Hair Loss may experience more stress, anxiety, and depression, and have lower levels of BDNF, which could predict the psychological impact.
December 2022 in “Journal of neurodevelopmental disorders” Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
18 citations,
December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
118 citations,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
August 2018 in “Online journal of neurology and brain disorders” Sodium valproate is effective in treating epilepsy, especially in patients who don't respond to other medications.
182 citations,
August 2016 in “Development” ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
144 citations,
August 2019 in “Cells” The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
29 citations,
January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
18 citations,
March 2020 in “Frontiers in Neuroendocrinology” The enzymes 5α-reductase and 3α/β-hydroxysteroid oxidoreductase help create brain-active substances from progesterone and testosterone, which could be used for treatment, but more research is needed to ensure their safety and effectiveness.
12 citations,
January 2016 in “Endocrinology, diabetes & metabolism case reports” Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
10 citations,
October 2017 in “Pediatric neurology” Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
9 citations,
December 2014 in “Neuropsychiatric Disease and Treatment” People with first-time vitiligo have lower levels of a certain brain protein compared to healthy individuals.
8 citations,
July 2019 in “Endocrine connections” Finasteride affects SRD5A2 gene pattern, possibly causing lasting side effects.
3 citations,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
3 citations,
April 2019 in “Journal of psychosexual health” Women with PCOS often have sexual problems, and treating these issues early can improve satisfaction and reduce healthcare costs.
2 citations,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
2 citations,
July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
1 citations,
June 2010 in “Expert Review of Dermatology” Covers common skin issues in kids, their diagnosis, treatment, and need for specialist care.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
[object Object] December 2021 in “Research Square (Research Square)” Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
January 2020 in “Journal of quality in health care & economics” Most women with depression in the study had low vitamin D levels.