August 2007 in “Journal of Investigative Dermatology” The meeting discussed vitamin D3's role in fighting tuberculosis, potential treatments for skin conditions like psoriasis, and hair follicle regeneration as a possible solution for hair loss.
35 citations
,
May 2022 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Androgens like testosterone are important hormones for both men and women, made differently in each sex and affecting the body by regulating genes and quick interactions with cell components.
30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
25 citations
,
September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
17 citations
,
December 2020 in “Journal of Genetic Counseling” Genetic counselors should be culturally skilled and aware of transgender patients' unique health risks and needs.
5 citations
,
May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
2 citations
,
August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
1 citations
,
July 2022 in “Вопросы современной педиатрии” Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
1 citations
,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
April 2026 in “Frontiers in Cell and Developmental Biology” Hair cell loss usually happens after hearing loss starts.
March 2026 in “Calcified Tissue International” The EDA pathway plays a key role in bone development by interacting with other signaling pathways.
February 2026 in “Frontiers in Endocrinology” Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.
February 2026 in “Frontiers in Immunology” Age-related immune changes worsen Parkinson's disease, suggesting new treatment strategies.
June 2025 in “Journal of Endocrinological Investigation” Adrenal disorders often cause high blood pressure in young people.
October 2024 in “Irish Journal of Medical Science (1971 -)” Continuous glucose monitoring and GLP-1 receptor agonists improve diabetes management, but personalized care and education are crucial.
Teprotumumab for thyroid eye disease commonly causes fatigue, brittle nails, dry eyes, hair loss, muscle spasms, and dry mouth, with rare serious events like blood clots.
January 2024 in “Theranostics” HDAC6 helps keep ovarian follicles dormant, extending female fertility.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
February 2022 in “Research Square (Research Square)” Key genes influencing sheep hair follicle development were identified, aiding wool breeding and understanding human hair conditions.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
1 citations
,
January 2019 in “Springer eBooks” Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.
September 2024 in “Portuguese Journal of Dermatology and Venereology” CCCA and LPP may be related hair loss conditions influenced by genetics and environment, needing early treatment.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
359 citations
,
September 2017 in “European Journal of Epidemiology” The Rotterdam Study updated findings on elderly health, focusing on heart disease, genetics, lifestyle effects, and disease understanding.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
24 citations
,
July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
1 citations
,
February 2023 in “Frontiers in Endocrinology” Childhood growth hormone deficiency can be accurately diagnosed using gene expression data and random forest analysis.