25 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
46 citations
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October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
19 citations
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November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
26 citations
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February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
13 citations
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October 2024 in “Scientific Reports” Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
53 citations
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January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
1 citations
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January 2024 in “Animal Research and One Health” Mouse models are essential for studying and improving genetic traits in agriculture.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
20 citations
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March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
89 citations
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April 2023 in “Forensic Science International Genetics” Forensic DNA Phenotyping can now better predict appearance, ancestry, and age from DNA, but more research is needed for precise police use.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
211 citations
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February 1994 in “Proceedings of the National Academy of Sciences” Too much parathyroid hormone-related protein in skin disrupts hair growth in mice.
October 2017 in “The Indian Journal of Animal Sciences” The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
Gene editing holds promise for skin treatments but needs careful safety and ethical consideration.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
Hairlessness in mammals is due to complex genetic changes in both genes and regulatory regions.
1 citations
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March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.
4 citations
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March 2024 in “Forensic Sciences Research” Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
May 2023 in “GSC biological and pharmaceutical sciences” Forensic DNA phenotyping is becoming useful for predicting physical traits in criminal investigations but is limited by ethical concerns and incomplete genetic understanding.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Forensic DNA phenotyping can predict physical traits from DNA but faces challenges in knowledge and ethics.