3 citations
,
December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
76 citations
,
May 2011 in “Liver transplantation” Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
2 citations
,
October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
September 2007 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
54 citations
,
May 2001 in “Journal of Investigative Dermatology” Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.
5 citations
,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
December 2024 in “Clinical Cosmetic and Investigational Dermatology” Elderly patients with eruptive skin bumps may have clear cell syringoma linked to glucose issues.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” 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.
September 2016 in “Case Reports in Internal Medicine” Chronic arsenic toxicity can cause diabetes and may not improve even with treatment.
9 citations
,
February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
182 citations
,
August 2016 in “Development” ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
21 citations
,
July 2019 in “Cardiovascular Research” High levels of male hormones in pregnant mice cause heart enlargement and poor heart function in their female babies.
11 citations
,
November 2021 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Cutaneous angiosarcomas require a combined treatment approach, but prognosis is generally poor.
5 citations
,
September 1989 in “Journal of The American Academy of Dermatology” Talc in street cocaine can cause immune-reactive skin nodules where injected.
2 citations
,
January 2013 in “Journal of the Korean Association of Oral and Maxillofacial Surgeons” Dental tissues are a promising and accessible source of adult stem cells for regenerative medicine.
Soapnut shampoo cleans hair naturally, promotes growth, reduces dandruff, and is gentle on the scalp.
Curry leaves offer health benefits and can be used safely in various forms for digestion, diabetes control, and hair growth.
September 2021 in “Rumphius Pattimura Biological Journal” Wetar Island honey has varying potassium and iron levels, affecting its health benefits.
January 2018 in “Stem cell biology and regenerative medicine” ATP-dependent chromatin remodeling is crucial for skin development and stem cell function.
14 citations
,
September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.