June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.
277 citations
,
July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
6 citations
,
January 2020 in “International journal of biological sciences” Removing the ROBO4 gene in mice reduces skin inflammation and hair loss by affecting certain inflammation pathways and gene expression.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
8 citations
,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
January 2018 in “Murdoch Research Repository (Murdoch University)” Improved genetic diagnosis of PCOS can lead to better patient outcomes.
372 citations
,
December 2004 in “Nature Genetics” September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
19 citations
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May 2016 in “Biology Direct” A new method, iSiMPRe, effectively identifies key protein regions in cancer genes, highlighting potential drug targets.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
17 citations
,
May 2018 in “BMC genomics” Researchers found genes and microRNAs that control curly fleece in Chinese Tan sheep.
2 citations
,
April 2018 in “Journal of Investigative Dermatology” The conclusion is that differentiating wound types in RDEB patients is important for clinical trials and understanding the disease.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
4 citations
,
August 2022 in “Cells” lncRNA2919 slows down rabbit hair growth by stopping cell growth and causing cell death.
January 2025 in “Case Reports in Oncological Medicine” Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
10 citations
,
November 2010 in “Journal of Dermatology” Longer CAG repeats in gene linked to more severe hair loss in females.
12 citations
,
November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
1 citations
,
April 2020 in “medRxiv (Cold Spring Harbor Laboratory)” The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
April 2022 in “Microbiology and Immunology” A specific DNA pattern in Malassezia restricta may be linked to hair loss in men.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
9 citations
,
December 2023 in “BMC Genomics” Hair follicles and urine cell pellets are promising for transcriptome studies.
3 citations
,
December 2024 in “Journal of Animal Science” LncRNA MSTRG.14227.1 hinders hair follicle development in cashmere goats, affecting cashmere quality.