98 citations
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
44 citations
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September 2014 in “Cell Death & Differentiation” Tumor suppressors help control inflammation in cancer and restoring their function could lead to new treatments.
40 citations
,
March 2019 in “Nature Communications” CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
26 citations
,
February 2021 in “FEBS Journal” Targeting regulatory T cells may help treat age-related diseases.
8 citations
,
February 2015 in “Cellular immunology” Deleting Snai2 and Snai3 causes fatal autoimmunity.
4 citations
,
October 2018 in “Cell Stem Cell” Hox genes control hair growth patterns in mammals by regulating stem cell activity in the skin.
2 citations
,
January 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
31 citations
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May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
6 citations
,
October 2022 in “International Journal of Molecular Sciences” Male mice with FGF5 mutations grow longer hair than females.
5 citations
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June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
2 citations
,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
March 2026 in “JID Innovations” Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
103 citations
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March 2011 in “PLoS Biology” Birds can lose neck feathers due to a genetic change that increases a gene's activity, helping them adapt to heat.
2 citations
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November 2011 in “InTech eBooks” Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
254 citations
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January 2012 in “Nature Reviews Molecular Cell Biology” Stem cell offspring help control their parent stem cells, affecting tissue health, healing, and cancer.
223 citations
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January 2014 in “International Journal of Molecular Sciences” The conclusion is that proper signaling is crucial for hair growth and development, and errors can lead to cancer or hair loss.
174 citations
,
November 2016 in “Cell stem cell” Different types of skin cells have unique genetic markers that affect how likely they are to spread cancer.
119 citations
,
November 2014 in “Trends in Cell Biology” Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
118 citations
,
August 2010 in “Developmental Cell” MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
86 citations
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December 2002 in “Tissue Antigens” A specific gene change is linked to severe hair loss.
85 citations
,
August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
78 citations
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October 2020 in “Experimental Dermatology” Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
60 citations
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September 2015 in “Expert Review of Clinical Immunology” Lymphocytes, especially CD8+ T cells, play a key role in causing alopecia areata, and targeting them may lead to new treatments.
54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
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.
52 citations
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October 2012 in “Journal of Dermatological Science” The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.