Results 61 to 70 of about 7,531,846 (135)

An open-label phase II study of bitopertin in adults and adolescents with erythropoietic protoporphyria or X-linked protoporphyria

Clinical and Experimental Dermatology
Abstract Background Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders characterized by accumulation of protoporphyrin IX (PPIX), painful phototoxic reactions and hepatobiliary disease.
Gayle Ross, Peter Stewart, George Mensing, Melanie Chin, Haley Howell, Heidi Mangus, Will Savage   +6 more
openaire   +2 more sources

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

Practical recommendations for biochemical and genetic diagnosis of the porphyrias

Liver International, Volume 45, Issue 3, March 2025.
Abstract The porphyrias are a group of rare inborn errors of metabolism associated with various clinical presentations and long‐term complications, making them relevant differential diagnoses to consider for many clinical specialities, especially hepatologists, gastroenterologists and dermatologists.
Aasne K. Aarsand, Jordi To‐Figueras, Sharon Whatley, Sverre Sandberg, Caroline Schmitt   +4 more
wiley   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +2 more sources

Assessment of Potential Drug–Drug Interactions for Novel Oral Melanocortin‐1 Receptor Agonist Dersimelagon

Pharmacology Research &Perspectives, Volume 13, Issue 1, February 2025.
ABSTRACT Dersimelagon is a novel investigational orally administered selective agonist of the melanocortin‐1 receptor. The drug–drug interaction (DDI) potential of dersimelagon was investigated in both nonclinical (in vitro) and clinical studies. The in vitro inhibition of CYP/UGT isoforms and efflux/uptake transporters by dersimelagon was assessed ...
Akihito Ogasawara, Ryosuke Ide, Shinsuke Inoue, Minoru Tsuda, Renli Teng   +4 more
wiley   +1 more source

Physiologically based pharmacokinetic modelling to predict potential drug–drug interactions of dersimelagon (MT‐7117)

British Journal of Clinical Pharmacology, Volume 91, Issue 2, Page 451-463, February 2025.
Abstract Aims Dersimelagon is a novel, investigational, orally administered, selective agonist of the melanocortin‐1 receptor that has demonstrated efficacy at increasing symptom‐free light exposure and an acceptable safety profile in patients with protoporphyria. A phase 1 drug–drug interaction (DDI) study demonstrated that dersimelagon 300 mg has the
Akihito Ogasawara, Koki Kojima, Yukiko Murata, Hidetoshi Shimizu   +3 more
wiley   +1 more source

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

, 2010
Background: Erythropoietic protoporphyria (EPP) is a cutaneous porphyria caused by mutations in the ferrochelatase (FECH) or, less frequently, the delta-aminolaevulinate synthase 2 (ALAS2) gene.
Badminton, Michael Norman, Mason, Nicola G., Holme, S. Alexander, Anstey, Alexander Vincent, Elder, George H., Whatley, Sharon D., A.V. Anstey, G.H. Elder, N.G. Mason, S.D. Whatley, S.A. Holme, M.N. Badminton   +11 more
core   +1 more source

Evolutionary strata on the X chromosomes of the dioecious plant Silene latifolia: Evidence from new sex-linked genes [PDF]

, 2007
Despite its recent evolutionary origin, the sex chromosome system of the plant Silene latifolia shows signs of progressive suppression of recombination having created evolutionary strata of different X-Y divergence on sex chromosomes. However, even after
Bergero, Roberta, Forrest, Alan, Kamau, Esther, Charlesworth, Deborah   +3 more
core   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

MAP7D2 is a brain expressing X-linked maternal imprinted gene in humans [PDF]

, 2011
Increasing evidence suggests imprinted genes influence mouse and human behaviors and cognitive functions. Unlike autosomal imprinted genes, X-linked imprinted genes are expressed in a sex-dependent manner because of male hemizygosity.
Yo Niida, Akihiro Yachie
core