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

Author:

Ratnamala Uppala12,Jhala Devendrasinh3,Jain Nayan K.2,Saiyed Nazia M.4,Raveendrababu Meda3,Rao Mandava V.3,Mehta Timir Y.5,Al-Ali Faiza M.6,Raval Kavi7,Nair Sreelatha8,Chandramohan Nair K.9,Kuracha Murali R.10,Nath Swapan K.11,Radhakrishna Uppala1213

Affiliation:

1. Department of Pharmacology; Creighton University; Omaha NE USA

2. Department of Life Sciences; Gujarat University; Ahmedabad India

3. Department of Zoology; School of Science; Gujarat University; Ahmedabad India

4. Department of Biotechnology; Institute of Science; Nirma University; Ahmedabad India

5. Samarpan Medical & Research Organization on Skin; Modasa India

6. Dermatology Centre; Rashid Hospital; Dubai Health Authority; Dubai UAE

7. Department of Radiology; Sinai-Grace Hospital; Detroit MI USA

8. Department of Fetal Medicine; Lifeline Genetics and Research Centre; Lifeline Hospital; Adoor India

9. Division of Surgical Oncology; Regional Cancer Centre; Thiruvananthapuram India

10. Cancer Center; Creighton University; Omaha NE USA

11. Arthritis and Immunology Research Program; Oklahoma Medical Research Foundation; Oklahoma City OK USA

12. Green Cross Voluntary Blood Bank; Ahmedabad India

13. Obstetrics and Gynecology; Oakland University William Beaumont School of Medicine; Royal Oak MI USA

Funder

Green Cross Blood Bank, Ahmedabad, India

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Cited by 34 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Genetic factors associated with hidradenitis suppurativa, a literature review;International Journal of Women’s Dermatology;2024-06

2. Acne;Rook's Textbook of Dermatology;2024-03-19

3. Hidradenitis suppurativa associated telomere‐methylome dysregulations in blood;Journal of the European Academy of Dermatology and Venereology;2023-12-06

4. Hidradenitis suppurativa: Detangling phenotypes and identifying common denominators;Journal of the European Academy of Dermatology and Venereology;2023-09-13

5. Hidradenitis suppurativa and follicular occlusion syndrome: Where is the pathogenetic link?;Clinics in Dermatology;2023-09

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