Results 41 to 50 of about 5,635 (205)

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin [PDF]

, 2019
PURPOSE: We aimed to assess the biological and clinical significance of the human cysteine protease inhibitor cystatin M/E, encoded by the CTS6 gene, in diseases of human hair and skin.
Erp, P.E.J. van, van den Bogaard, EHJ, van Erp, PEJ, van Erp, Piet E J, Joosten, Marieke, Ivonne M.J.J. van Vlijmen-Willems, Selma Atalay, Jansen, Patrick A M, Marieke Joosten, Atalay, Selma, Schalkwijk, J, Schalkwijk, J., Vlijmen-Willems, I.M.J.J. van, Jansen, PAM, Venselaar, H., Michel van Geel, Peppelman, M, Marleen E.H. Simon, Bogaard, E.H.J. van den, van Erp, Piet E. J., Jansen, Patrick A. M., van den Bogaard, Ellen H. J., Simon, Marleen E H, Joost Schalkwijk, Hanka Venselaar, Venselaar, H, Malou Peppelman, Ellen H.J. van den Bogaard, Zeeuwen, P, van Geel, Michel, van Vlijmen-Willems, Ivonne M J J, van Vlijmen-Willems, Ivonne M. J. J., Geel, M. van, Patrick A.M. Jansen, Peppelman, Malou, van Geel, M, Atalay, S, van den Bogaard, Ellen H J, Simon, Marleen E. H., Zeeuwen, Patrick L J M, Simon, M.E., van Vlijmen-Willems, I, Simon, MEH, Zeeuwen, P.L.J.M., Venselaar, Hanka, Patrick L.J.M. Zeeuwen, Piet E.J. van Erp, Zeeuwen, Patrick L. J. M., Peppelman, M., Schalkwijk, Joost, Atalay, S., Jansen, P.A.M., Joosten, M.   +52 more
core   +5 more sources

Viable hypotrichosis in a Jersey calf [PDF]

, 1961
Various degrees of congenital hairlessness have been seen in cattle, and the literature on this subject has been reviewed by Hutt and Saunders (1953), who have proposed a classification of five categories.
Alexander, G.I., McGavin, M.D.
core   +4 more sources

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

Genetics Selection Evolution, 2003
Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle.
Drögemüller Cord, Distl Ottmar, Leeb Tosso   +2 more
doaj   +1 more source

A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle [PDF]

, 2021
Genodermatoses, such as heritable skin disorders, mostly represent Mendelian conditions. Congenital hypotrichosis (HY) characterize a condition of being born with less hair than normal.
Veiga, Inês M. B., Inês M. B. Veiga, Cord Drögemüller, Jacinto, Joana G P, Markey, Alysta D., Monika Welle, Paris, Julia M., Joana G. P. Jacinto, Alysta D. Markey, Beever, Jonathan E., Drögemüller, Cord, Welle, Monika, Julia M. Paris, Jonathan E. Beever   +13 more
core   +2 more sources

Intragenic deletion mutation in the gene desmoglein 4 underlies autosomal recessive hypotrichosis in six consanguineous families [PDF]

, 2016
ObjectivesLocalized autosomal recessive hypotrichosis is a non-syndromic human hair loss disorder, affecting scalp, eyebrows and eyelashes, and other parts of the body. Six consanguineous families with this form of hair loss disorder were investigated at
Ahmad, Wasim, Khan, Bushra, Channa, Naseem A., Basit, Sulman, Ansar, Muhammad, Muhammad, Dost, Raza, Syed I., Ahmad, Farooq   +7 more
core   +1 more source

Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp [PDF]

, 2020
Peeling skin disease is a rare genodermatosis characterized by superficial exfoliation or peeling of the skin. Peeling skin disease is caused by biallelic mutations in CDSN as an autosomal recessive trait.
Jaap J. A. J. van der Velden, Jans J. Engelhart, Steijlen, Peter M., Peter M. Steijlen, Michel van Geel, Jonkman, Marcel F., Marcel F. Jonkman, Engelhart, Jans J., van der Velden, Jaap J. A. J., Geel, Michel   +9 more
core   +2 more sources

Costello Syndrome Associated With Somatic Mosaicism of Rare p.Gly13Asp HRAS Variant: Expanding the Phenotypic Spectrum

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
We report a case of a 22‐year‐old woman with predominantly cutaneous involvement in whom whole‐exome sequencing from both blood‐ and hair‐derived DNA samples identified somatic mosaicism for the rare HRAS p.Gly13Asp variant. This case expands the phenotypic spectrum of Costello syndrome and underscores the importance of multitissue genomic analysis ...
Jovan Lalosevic, Katarina Djordjevic, Mirjana Gajic‐Veljic, Sonja Pavlovic, Vladimir Gasic, Marina Andjelkovic, Milos Nikolic   +6 more
wiley   +1 more source

Familiäre juvenile Makuladystrophie mit kongenitaler Hypotrichosis capitis -- Familial juvenile macular dystrophy with congenital hypotrichosis capitis

, 1998
Background: Our knowledge about the pathogenesis of hereditary macular diseases is still very circumscript. For genetic determination, a knowledge of the coincidence of eye symptoms and other defined common symptoms is helpful.
Weber, Bernhard H. F., Völcker, H. E., Rohrschneider, K., Tilgen, W., Becker, M.   +4 more
core   +1 more source

Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis [PDF]

, 2006
The gene encoding human desmoglein 4 (DSG4) was recently cloned, and a mutation in this gene has been reported in several consanguineous Pakistani families affected with localized autosomal recessive hypotrichosis (LAH). In addition, various mutations in
Kariya, Naoyuki, Ito, Masaaki, Matsunaga, Kayoko, Sakamoto, Fumiko, Shimomura, Yutaka   +4 more
core   +1 more source

Marie-Unna Hereditary Hypotrichosis

International Journal of Trichology, 2014
Marie-Unna type of hereditary hypotrichosis is a rare autosomal dominant disorder that has a distinctive type of hair loss pattern that varies with child's age. It is characterized by sparse or absent hair at birth with regrowth of coarse, wiry twisted hair from childhood, followed by progressive loss on approaching puberty.
Srinivas, Sahana M, Hiremagalore, Ravi
openaire   +3 more sources