Results 111 to 120 of about 7,293 (261)

Ectodermal Dysplasia: Report and Analysis of Eleven South Indian Patients with Review of Literature

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Ectodermal dysplasia represents a rare syndrome affecting two or more ectodermally derived structures. The condition is thought to occur in approximately 1 in every 100,000 live births.
Renuka Ammanagi, Vaishali Keluskar, Anjana Bagewadi   +2 more
doaj  

Short Anagen Syndrome: a case study [PDF]

, 2012
Short anagen syndrome is a relatively recently described entity. This syndrome is an unusual condition where the ana-gen growth phase of hair follicles is shorter than normal.
Alés Fernández, Martina, Camacho Martínez, Francisco Miguel   +1 more
core   +1 more source

Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis [PDF]

, 2014
Seok‐Kweon Yun, Yong‐Gon Cho, Ki Hun Song, Su‐Ran Hwang, Sungjoo Kim Yoon, Keonwoo Choi, Han‐Uk Kim, Jin Park   +7 more
openalex   +1 more source

LB1782 A new gene ADAM17 for the autosomal dominant inheritance of hypotrichosis [PDF]

, 2023
Chuanying Pan, X. Wang, Zhirong Yao, Ming Li   +3 more
openalex   +1 more source

Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy [PDF]

, 2003
Margarita Indelman, Richard N. Bergman, Michal Ramon, Eli Sprecher, Christian Hamel, Ken K. Nischal, Dorothy Thompson, Marie-Odile Surget, Hatam Ganthos, Benjamin T. Miller, Gabriele Richard, Raziel Lurie, Rina Leibu, Isabelle Russell‐Eggitt   +13 more
openalex   +1 more source

Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient

Frontiers in Medicine
Woolly hair (WH) is a hair shaft anomaly characterized by tightly curled hair that typically stops growing at a few inches. Autosomal recessive WH (ARWH; OMIM no.
Satoko Minakawa, Satoko Minakawa, Yasushi Matsuzaki, Toshihide Higashino, Tamio Suzuki, Hirofumi Tomita, Eijiro Akasaka, Daisuke Sawamura   +7 more
doaj   +1 more source

Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients

Clinical, Cosmetic and Investigational Dermatology
Can Cui,* Xi Chen,* Ying-Zi Zhang, Jian-Yi Ni, Jin-Yuan Ma, Ai-Hua Wei Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, People’s Republic of China*These authors contributed equally ...
Cui C, Chen X, Zhang YZ, Ni JY, Ma JY, Wei AH   +5 more
doaj  

Targeting matriptase in breast cancer abrogates tumour progression via impairment of stromal-epithelial growth factor signalling. [PDF]

, 2015
Matriptase is an epithelia-specific membrane-anchored serine protease that has received considerable attention in recent years because of its consistent dysregulation in human epithelial tumours, including breast cancer.
Bergum, Christopher, Boerner, Julie, Colombo, Éloïc, Lang, Julie E, Leduc, Richard, List, Karin, Marsault, Eric, Molinolo, Alfredo A, Murray, Andrew S, Tanabe, Lauren M, Varela, Fausto A, Zoratti, Gina L   +11 more
core   +1 more source

A novel splice-site mutation in theCDH3gene in hypotrichosis with juvenile macular dystrophy [PDF]

, 2008
Musharraf Jelani, M.S. Chishti, Wasim Ahmad   +2 more
openalex   +1 more source

A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles [PDF]

, 2009
Muhammad Ayub, Sulman Basit, Musharraf Jelani, Fazal Ur Rehman, Muhammad Iqbal, Masoom Yasinzai, Wasim Ahmad   +6 more
openalex   +1 more source