7 citations
,
January 2025 in “Journal of Experimental & Clinical Cancer Research” PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
18 citations
,
December 2016 in “European journal of pharmacology” A new compound slows cancer cell growth and causes cell death by blocking cell cycle progression and increasing cell-damaging molecules.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
October 2017 in “The Indian Journal of Animal Sciences” The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
227 citations
,
January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
18 citations
,
June 2019 in “Twin research and human genetics” The 25Up study collected extensive data on mental disorders and related factors in Australian twins and siblings to investigate the genetics of psychiatric illnesses.
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
1 citations
,
April 2023 in “Heliyon” Disitamab vedotin and gemcitabine effectively treated bladder cancer without major side effects.
53 citations
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October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
March 2024 in “Veterinary sciences” Geriatric Julia Creek dunnarts often suffer from reproductive and skin diseases, impacting conservation efforts.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
April 2021 in “Journal of Investigative Dermatology” The new skin-targeted COVID-19 vaccine creates strong immune responses and could improve vaccination methods.
April 2021 in “Journal of Investigative Dermatology” A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
1 citations
,
January 2013 in “Lung India” Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
5 citations
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March 2019 in “Experimental dermatology” Activating TLR3 may help produce retinoic acid, important for tissue regeneration.
January 2022 in “SSRN Electronic Journal” Gemcitabine and Disitamab Vedotin effectively and safely reduced bladder cancer in a patient.
20 citations
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July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
20 citations
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December 2021 in “Journal of the American Academy of Dermatology” Continuous treatment with ritlecitinib and brepocitinib is needed to maintain hair regrowth in alopecia areata.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
7 citations
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June 2022 in “Biology” Men with more CAG repeats in the androgen receptor gene and lower testosterone levels may experience more severe COVID-19.
February 2024 in “Planta” TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
8 citations
,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
1 citations
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November 1995 in “Postgraduate medical journal” A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
15 citations
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April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.