24 citations,
March 2016 in “Journal of Investigative Dermatology” TIP39 and PTH2R help control calcium levels and skin cell development.
1 citations,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
51 citations,
February 2009 in “Journal of dermatological science” Pitx2 helps outer root sheath cells differentiate but can't start hair growth on its own.
29 citations,
June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
112 citations,
January 2014 in “Molecular and cellular therapies” Blocking the Wnt pathway could lead to new treatments for cancer and tissue repair but requires careful development to avoid side effects.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
2 citations,
October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
33 citations,
May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
134 citations,
January 2011 in “Development” Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
1 citations,
April 2023 in “International Journal of Molecular Sciences” New CRISPR/Cas9 variants and nanotechnology-based delivery methods are improving cancer treatment, but choosing the best variant and overcoming certain limitations remain challenges.
60 citations,
July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
82 citations,
March 2012 in “Development” Drosha and Dicer are essential for hair follicle health and preventing DNA damage in skin cells.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
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.
16 citations,
September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
1 citations,
December 2023 in “International journal of molecular sciences” miR-199a-3p controls hair growth and is linked to alopecia areata.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
25 citations,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
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.
13 citations,
November 2017 in “Journal of Cellular and Molecular Medicine” The workshop discussed the role of a protein called calreticulin in health and disease, its potential as a treatment target, and its possible use as a disease marker.
138 citations,
June 2004 in “Journal of Investigative Dermatology” Involucrin gene expression is controlled by specific proteins and signaling pathways.
October 2023 in “Frontiers in endocrinology” Effective PCOS treatments require targeting specific signaling pathways.
14 citations,
June 2021 in “Expert Opinion on Therapeutic Patents” New patents show progress in developing drugs targeting the Wnt pathway for diseases like cancer and hair loss.
17 citations,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
11 citations,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
8 citations,
June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
27 citations,
January 2020 in “Experimental Dermatology” Immune cells affect hair growth and could lead to new hair loss treatments.
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.
271 citations,
March 1999 in “Developmental biology” The research shows that a gene called Wnt3 affects hair growth and structure, causing short hair and balding when overactive.
10 citations,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.