87 citations
,
March 2007 in “Biological Chemistry” Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
845 citations
,
February 2001 in “The Journal of Clinical Endocrinology & Metabolism” The enzyme for activating vitamin D is found in many body tissues, not just the kidneys.
12 citations
,
June 2020 in “The anatomical record” miR-203a-3p helps hair follicle stem cells become specialized by targeting Smad1.
December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
10 citations
,
August 2023 in “Animals” SLC45A2 and GPNMB genes help control chicken feather color by promoting melanin.
29 citations
,
May 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
September 2021 in “Authorea (Authorea)” Systemic lupus erythematosus caused severe abdominal issues in a Sudanese woman.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
1 citations
,
January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
2 citations
,
June 2022 in “International Journal of Molecular Sciences” Lower levels of certain genes in hair cells improve hair loss treatment outcomes.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
Sphingosine 1-phosphate affects inflammation and gene expression in different aorta cells.
555 citations
,
July 2001 in “Genes & Development” Tcf3 and Lef1 are key in deciding skin stem cell roles.
6 citations
,
May 1986 in “Cancer Chemotherapy and Pharmacology” The drug TGU was ineffective against small cell lung cancer and caused significant bone marrow suppression.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
477 citations
,
March 2004 in “Proceedings of the National Academy of Sciences” The DMI3 gene is essential for nodule development and symbiosis in certain plants.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
11 citations
,
November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
December 2024 in “Livers” Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
50 citations
,
September 2023 in “Biomarker Research” S100A6 is important for cell functions and can help diagnose and treat diseases.
4 citations
,
January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
April 2023 in “Journal of Investigative Dermatology” AL136131.3 slows hair growth by affecting energy processes in hair loss.