Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
14 citations
,
July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” The peach gene pCTG134 helps control the interaction between auxin and ethylene hormones during fruit ripening.
71 citations
,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
32 citations
,
January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene network led by RSL4 is crucial for early root hair growth in response to cold in Arabidopsis thaliana.
6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
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.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The research provided new insights into the genetic factors contributing to hair loss and skin conditions by analyzing individual cells from the human scalp.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
4 citations
,
October 2024 in “Heliyon” CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” 7DHC and BM15766 damage hair follicle structure and reduce key gene expression.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
12 citations
,
December 2003 in “Gene” The ovine Hoxc-13 gene is crucial for hair formation and may have other skin functions.
29 citations
,
January 2021 in “G3 Genes Genomes Genetics” A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
5 citations
,
January 2016 in “Genetics and molecular research” Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
28 citations
,
December 2018 in “Plant, cell & environment/Plant, cell and environment” A protein called PLC2 is important for the growth and development of plant roots influenced by auxin.
3 citations
,
December 2023 in “Aging” hsa_circ_0002980 can help stop liver cancer cells from growing and spreading.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
36 citations
,
September 1999 in “Journal of Cell Science” Basonuclin may help control ribosomal RNA gene activity in skin cells.
October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
14 citations
,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
January 2024 in “Wiadomości Lekarskie” The ABI1 gene contributes to prostate cancer progression and treatment resistance.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.