title: Expanding the spectrum of γ-secretase gene mutation-associated phenotypes: two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobata.
authors.affiliation: Department of Pharmacology, Creighton University, Omaha, NE, USA.|Department of Life Sciences, Gujarat University, Ahmedabad, India.
authors.forename: Uppala
authors.initials: U
authors.lastname: Ratnamala
authors.affiliation: Department of Zoology, School of Science, Gujarat University, Ahmedabad, India.
authors.forename: Devendrasinh
authors.initials: D
authors.lastname: Jhala
authors.affiliation: Department of Life Sciences, Gujarat University, Ahmedabad, India.
authors.forename: Nayan K
authors.initials: NK
authors.lastname: Jain
authors.affiliation: Department of Biotechnology, Institute of Science, Nirma University, Ahmedabad, India.
authors.forename: Nazia M
authors.initials: NM
authors.lastname: Saiyed
authors.affiliation: Department of Zoology, School of Science, Gujarat University, Ahmedabad, India.
authors.forename: Meda
authors.initials: M
authors.lastname: Raveendrababu
authors.affiliation: Department of Zoology, School of Science, Gujarat University, Ahmedabad, India.
authors.forename: Mandava V
authors.initials: MV
authors.lastname: Rao
authors.affiliation: Samarpan Medical & Research Organization on Skin, Modasa, India.
authors.forename: Timir Y
authors.initials: TY
authors.lastname: Mehta
authors.affiliation: Dermatology Centre, Rashid Hospital, Dubai Health Authority, Dubai, UAE.
authors.forename: Faiza M
authors.initials: FM
authors.lastname: Al-Ali
authors.affiliation: Department of Radiology, Sinai-Grace Hospital, Detroit, MI, USA.
authors.forename: Kavi
authors.initials: K
authors.lastname: Raval
authors.affiliation: Department of Fetal Medicine, Lifeline Genetics and Research Centre, Lifeline Hospital, Adoor, India.
authors.forename: Sreelatha
authors.initials: S
authors.lastname: Nair
authors.affiliation: Division of Surgical Oncology, Regional Cancer Centre, Thiruvananthapuram, India.
authors.forename: Nair K
authors.initials: NK
authors.lastname: Chandramohan
authors.affiliation: Cancer Center, Creighton University, Omaha, NE, USA.
authors.forename: Murali R
authors.initials: MR
authors.lastname: Kuracha
authors.affiliation: Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
authors.forename: Swapan K
authors.initials: SK
authors.lastname: Nath
authors.affiliation: Green Cross Voluntary Blood Bank, Ahmedabad, India.|Obstetrics and Gynecology, Oakland University William Beaumont School of Medicine, Royal Oak, MI, USA.
authors.forename: Uppala
authors.initials: U
authors.lastname: Radhakrishna
mesh_terms: D000069316:Acne Conglobata / Q000175:diagnosis / Q000235:genetics*; D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D020869:Gene Expression Profiling; D056726:Genetic Association Studies; D017497:Hidradenitis Suppurativa / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D051880:Receptors, Notch / Q000378:metabolism
chemical_list: D008562:Membrane Glycoproteins; D051880:Receptors, Notch; C413604:nicastrin protein; D053829:Amyloid Precursor Protein Secretases
keywords: acne conglobata; acne inversa; hidradenitis suppurativa; mutations; γ-secretase