1 citations,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
1 citations,
December 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
1 citations,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
1 citations,
October 2017 in “Circulation” A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
1 citations,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
March 2024 in “Research Square (Research Square)” Sex steroids affect the MafB gene differently in male and female hamsters.
The KRT84 gene is linked to better wool quality in Gansu Alpine Fine-wool sheep.
January 2024 in “Authorea (Authorea)” STK11 gene polymorphism does not predict metformin response in PCOS.
January 2024 in “Animals” SP1 promotes and KROX20 inhibits hair cell growth by affecting the CUX1 gene.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.
January 2024 in “Journal of camel practice and research/Journal of Camel Practice and Research” Certain genetic variations in camels affect hair coarseness.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
January 2024 in “Future science OA” Loss of the Y chromosome and UTY gene activity increases cancer risk in men.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
November 2023 in “British Journal of Dermatology” Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” This study investigated the role of CTLA4 CT60 A/G and +49AG polymorphisms in susceptibility to Alopecia Areata (AA) in a Turkish population. It included 195 patients and 173 healthy controls, with genotype and allele frequencies determined by PCR-RFLP method. The results indicated that the +49AG polymorphism was not associated with AA susceptibility, but the CT60 polymorphism might be associated with increased susceptibility to AA. Further studies are needed to confirm these findings.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
June 2023 in “International Journal of Research in Dermatology” Certain gene variations are linked to severe acne in Egyptian patients and could guide treatment choices.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
May 2023 in “Journal of Investigative Dermatology” CGRP MAbs treatment for migraines may also improve rosacea symptoms, but more research is needed to confirm its effectiveness and safety.
May 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet2 and Tet3 enzymes are important for controlling hair growth and shape by affecting gene activity and DNA structure in hair follicles.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
December 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.