Expanding the spectrum of γ-secretase gene mutation-associated phenotypes: two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobata.

• Authors: Uppala Ratnamala, Devendrasinh Jhala, Nayan K Jain, Nazia M Saiyed, Meda Raveendrababu, Mandava V Rao, Timir Y Mehta, Faiza M Al-Ali, Kavi Raval, Sreelatha Nair, Nair K Chandramohan, Murali R Kuracha, Swapan K Nath, Uppala Radhakrishna
• Journal: Experimental dermatology (Exp Dermatol) Vol. 25 Issue 4 Pg. 314-6 (Apr 2016) ISSN: 1600-0625 [Electronic] Denmark
• PMID: 26663538 (Publication Type: Letter, Research Support, Non-U.S. Gov't)

Chemical References

• Membrane Glycoproteins
• Receptors, Notch
• nicastrin protein
• Amyloid Precursor Protein Secretases

Topics

• Acne Conglobata (diagnosis, genetics)
• Amyloid Precursor Protein Secretases (genetics)
• DNA Mutational Analysis
• Family Health
• Female
• Frameshift Mutation
• Gene Expression Profiling
• Genetic Association Studies
• Hidradenitis Suppurativa (diagnosis, genetics)
• Humans
• Male
• Membrane Glycoproteins (genetics)
• Mutation
• Phenotype
• Receptors, Notch (metabolism)