A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family

Autor: Ghazanfar Ali, Sadia Sadia, Syeda Ain-ul- Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur- Rehman, Zeeshan Anjum, Fazal- Ur- Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan

Publikováno v: Genetics Research, Vol 2023 (2023)

EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp

Externí odkaz: https://doaj.org/article/f0de4b1c26c54d1183a65e7a40404756

Novel frameshift mutations in XPC gene underlie xeroderma pigmentosum in Pakistani families

Autor: Ambreen Ijaz, Khadim Shah, Abdul Aziz, Fazal U Rehman, Yasir Ali, Abdul M Tareen, Kafaitullah Khan, Muhammad Ayub, Abdul Wali

Publikováno v: Indian Journal of Dermatology, Vol 66, Iss 2, Pp 220-222 (2021)

Externí odkaz: https://doaj.org/article/3113ae84996d41a79c0830042fc8a376

Novel frameshift mutations in XPC gene underlie xeroderma pigmentosum in Pakistani families

Autor: Fazal Ur Rehman, Khadim Shah, Abdul Aziz, Abdul Wali, Abdul Malik Tareen, Yasir Ali, Kafaitullah Khan, Ambreen Ijaz, Muhammad Ayub

Publikováno v: Indian Journal of Dermatology, Vol 66, Iss 2, Pp 220-222 (2021)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cb121d515739a381647ebd42dab267e
http://www.e-ijd.org/article.asp?issn=0019-5154

Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

Autor: Abdul Wali, Sheikh Ahmed, Niamatullah Khan, Noor Muhammad, Muhammad Humayun, Ghulam Mustafa Khan, Sher Alam Khan, Noor Hassan, Fazal Ur Rehman, Sulman Basit, Saadullah Khan, Kafaitullah Khan, Khadim Shah, Samira Khaliq, Muhammad Ayub

Publikováno v: International journal of dermatology. 58(8)

Background Autosomal recessive wooly hair/hypotrichosis is an inherited disorder of hair characterized by less dense, short, and tightly curled hair on the scalp and sometimes less dense to complete absence of eyebrows and eyelashes. Autosomal recess

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31681a56efaed433b8ee5dbeabb3bcf8
https://pubmed.ncbi.nlm.nih.gov/31077348

Further evidence for the association of CYP2D6*4 gene polymorphism with Parkinson's disease: a case control study

Autor: Jakob von Engelhardt, Anwarullah, Mazhar Badshah, Aneesa Sultan, Nafees Ahmad, Muhammad Aslam, Kafaitullah Khan, Rashda Abbasi

Publikováno v: Genes and environment 39(1), 18 (2017). doi:10.1186/s41021-017-0078-8
Genes and Environment
Genes and Environment, Vol 39, Iss 1, Pp 1-6 (2017)

Background Genetic and environmental risk factors play an important role for the susceptibility to sporadic Parkinson’s disease (PD). It was hypothesized that a splice variant of the CYP2D6 gene (CYP2D6*4 allele) is associated with PD because it al

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a13f671d8327bd8d650b4820dfdab58b