Molecular Basis of Hereditary Hair Diseases
Keio J Med. 2023 Jul 4. doi: 10.2302/kjm.2023-0007-IR. Online ahead of print.ABSTRACTThe hair follicle is an appendage of the skin that undergoes hair cycles throughout life. Recently, numerous genes expressed in the hair follicles have been identified, and variants in some of these genes are now known to underlie hereditary hair diseases in humans. Hereditary hair diseases are classified into non-syndromic and syndromic forms. In the Japanese population, the non-syndromic form of autosomal recessive woolly hair, which is caused by founder pathogenic variants in the lipase H (LIPH) gene, is the most prevalent hereditary ha...
Source: The Keio Journal of Medicine - July 5, 2023 Category: Universities & Medical Training Authors: Yutaka Shimomura Source Type: research
Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan
Keio J Med. 2023 Jun 29. doi: 10.2302/kjm.2023-0008-IR. Online ahead of print.ABSTRACTOur Research Group for Rare and Intractable Skin Diseases operates within the Project for Research on Intractable Diseases of the Ministry of Health, Labour, and Welfare of Japan and is conducting research on eight rare intractable skin diseases. Five of these are monogenic disorders (epidermolysis bullosa, congenital ichthyoses, oculocutaneous albinism, pseudoxanthoma elasticum, and hereditary angioedema), and for a sixth [generalized pustular psoriasis (GPP)], genetic predisposing factors are important. This review introduces our activi...
Source: The Keio Journal of Medicine - June 28, 2023 Category: Universities & Medical Training Authors: Masashi Akiyama Takuya Takeichi Shigaku Ikeda Akira Ishiko Michiko Kurosawa Hiroyuki Murota Yutaka Shimomura Tamio Suzuki Katsuto Tamai Akio Tanaka Tadashi Terui Masayuki Amagai Source Type: research
Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan
Keio J Med. 2023 Jun 29. doi: 10.2302/kjm.2023-0008-IR. Online ahead of print.ABSTRACTOur Research Group for Rare and Intractable Skin Diseases operates within the Project for Research on Intractable Diseases of the Ministry of Health, Labour, and Welfare of Japan and is conducting research on eight rare intractable skin diseases. Five of these are monogenic disorders (epidermolysis bullosa, congenital ichthyoses, oculocutaneous albinism, pseudoxanthoma elasticum, and hereditary angioedema), and for a sixth [generalized pustular psoriasis (GPP)], genetic predisposing factors are important. This review introduces our activi...
Source: The Keio Journal of Medicine - June 28, 2023 Category: Universities & Medical Training Authors: Masashi Akiyama Takuya Takeichi Shigaku Ikeda Akira Ishiko Michiko Kurosawa Hiroyuki Murota Yutaka Shimomura Tamio Suzuki Katsuto Tamai Akio Tanaka Tadashi Terui Masayuki Amagai Source Type: research
Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan
Keio J Med. 2023 Jun 29. doi: 10.2302/kjm.2023-0008-IR. Online ahead of print.ABSTRACTOur Research Group for Rare and Intractable Skin Diseases operates within the Project for Research on Intractable Diseases of the Ministry of Health, Labour, and Welfare of Japan and is conducting research on eight rare intractable skin diseases. Five of these are monogenic disorders (epidermolysis bullosa, congenital ichthyoses, oculocutaneous albinism, pseudoxanthoma elasticum, and hereditary angioedema), and for a sixth [generalized pustular psoriasis (GPP)], genetic predisposing factors are important. This review introduces our activi...
Source: The Keio Journal of Medicine - June 28, 2023 Category: Universities & Medical Training Authors: Masashi Akiyama Takuya Takeichi Shigaku Ikeda Akira Ishiko Michiko Kurosawa Hiroyuki Murota Yutaka Shimomura Tamio Suzuki Katsuto Tamai Akio Tanaka Tadashi Terui Masayuki Amagai Source Type: research
Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan
Keio J Med. 2023 Jun 29. doi: 10.2302/kjm.2023-0008-IR. Online ahead of print.ABSTRACTOur Research Group for Rare and Intractable Skin Diseases operates within the Project for Research on Intractable Diseases of the Ministry of Health, Labour, and Welfare of Japan and is conducting research on eight rare intractable skin diseases. Five of these are monogenic disorders (epidermolysis bullosa, congenital ichthyoses, oculocutaneous albinism, pseudoxanthoma elasticum, and hereditary angioedema), and for a sixth [generalized pustular psoriasis (GPP)], genetic predisposing factors are important. This review introduces our activi...
Source: The Keio Journal of Medicine - June 28, 2023 Category: Universities & Medical Training Authors: Masashi Akiyama Takuya Takeichi Shigaku Ikeda Akira Ishiko Michiko Kurosawa Hiroyuki Murota Yutaka Shimomura Tamio Suzuki Katsuto Tamai Akio Tanaka Tadashi Terui Masayuki Amagai Source Type: research
Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan
Keio J Med. 2023 Jun 29. doi: 10.2302/kjm.2023-0008-IR. Online ahead of print.ABSTRACTOur Research Group for Rare and Intractable Skin Diseases operates within the Project for Research on Intractable Diseases of the Ministry of Health, Labour, and Welfare of Japan and is conducting research on eight rare intractable skin diseases. Five of these are monogenic disorders (epidermolysis bullosa, congenital ichthyoses, oculocutaneous albinism, pseudoxanthoma elasticum, and hereditary angioedema), and for a sixth [generalized pustular psoriasis (GPP)], genetic predisposing factors are important. This review introduces our activi...
Source: The Keio Journal of Medicine - June 28, 2023 Category: Universities & Medical Training Authors: Masashi Akiyama Takuya Takeichi Shigaku Ikeda Akira Ishiko Michiko Kurosawa Hiroyuki Murota Yutaka Shimomura Tamio Suzuki Katsuto Tamai Akio Tanaka Tadashi Terui Masayuki Amagai Source Type: research
Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan
Keio J Med. 2023 Jun 29. doi: 10.2302/kjm.2023-0008-IR. Online ahead of print.ABSTRACTOur Research Group for Rare and Intractable Skin Diseases operates within the Project for Research on Intractable Diseases of the Ministry of Health, Labour, and Welfare of Japan and is conducting research on eight rare intractable skin diseases. Five of these are monogenic disorders (epidermolysis bullosa, congenital ichthyoses, oculocutaneous albinism, pseudoxanthoma elasticum, and hereditary angioedema), and for a sixth [generalized pustular psoriasis (GPP)], genetic predisposing factors are important. This review introduces our activi...
Source: The Keio Journal of Medicine - June 28, 2023 Category: Universities & Medical Training Authors: Masashi Akiyama Takuya Takeichi Shigaku Ikeda Akira Ishiko Michiko Kurosawa Hiroyuki Murota Yutaka Shimomura Tamio Suzuki Katsuto Tamai Akio Tanaka Tadashi Terui Masayuki Amagai Source Type: research
Targeting DNA Methylation in Podocytes to Overcome Chronic Kidney Disease
Keio J Med. 2023 Jun 3. doi: 10.2302/kjm.2022-0017-IR. Online ahead of print.ABSTRACTThe number of patients with chronic kidney disease (CKD) is on the rise worldwide, and there is urgent need for the development of effective plans against the increasing incidence of CKD. Podocytes, glomerular epithelial cells, are an integral part of the primary filtration unit of the kidney and form a slit membrane as a barrier to prevent proteinuria. The role of podocytes in the pathogenesis and progression of CKD is now recognized. Podocyte function depends on a specialized morphology with the arranged foot processes, which is directly...
Source: The Keio Journal of Medicine - June 4, 2023 Category: Universities & Medical Training Authors: Kaori Hayashi Source Type: research
Targeting DNA Methylation in Podocytes to Overcome Chronic Kidney Disease
Keio J Med. 2023 Jun 3. doi: 10.2302/kjm.2022-0017-IR. Online ahead of print.ABSTRACTThe number of patients with chronic kidney disease (CKD) is on the rise worldwide, and there is urgent need for the development of effective plans against the increasing incidence of CKD. Podocytes, glomerular epithelial cells, are an integral part of the primary filtration unit of the kidney and form a slit membrane as a barrier to prevent proteinuria. The role of podocytes in the pathogenesis and progression of CKD is now recognized. Podocyte function depends on a specialized morphology with the arranged foot processes, which is directly...
Source: The Keio Journal of Medicine - June 4, 2023 Category: Universities & Medical Training Authors: Kaori Hayashi Source Type: research
Targeting DNA Methylation in Podocytes to Overcome Chronic Kidney Disease
Keio J Med. 2023 Jun 3. doi: 10.2302/kjm.2022-0017-IR. Online ahead of print.ABSTRACTThe number of patients with chronic kidney disease (CKD) is on the rise worldwide, and there is urgent need for the development of effective plans against the increasing incidence of CKD. Podocytes, glomerular epithelial cells, are an integral part of the primary filtration unit of the kidney and form a slit membrane as a barrier to prevent proteinuria. The role of podocytes in the pathogenesis and progression of CKD is now recognized. Podocyte function depends on a specialized morphology with the arranged foot processes, which is directly...
Source: The Keio Journal of Medicine - June 4, 2023 Category: Universities & Medical Training Authors: Kaori Hayashi Source Type: research
Targeting DNA Methylation in Podocytes to Overcome Chronic Kidney Disease
Keio J Med. 2023 Jun 3. doi: 10.2302/kjm.2022-0017-IR. Online ahead of print.ABSTRACTThe number of patients with chronic kidney disease (CKD) is on the rise worldwide, and there is urgent need for the development of effective plans against the increasing incidence of CKD. Podocytes, glomerular epithelial cells, are an integral part of the primary filtration unit of the kidney and form a slit membrane as a barrier to prevent proteinuria. The role of podocytes in the pathogenesis and progression of CKD is now recognized. Podocyte function depends on a specialized morphology with the arranged foot processes, which is directly...
Source: The Keio Journal of Medicine - June 4, 2023 Category: Universities & Medical Training Authors: Kaori Hayashi Source Type: research
Targeting DNA Methylation in Podocytes to Overcome Chronic Kidney Disease
Keio J Med. 2023 Jun 3. doi: 10.2302/kjm.2022-0017-IR. Online ahead of print.ABSTRACTThe number of patients with chronic kidney disease (CKD) is on the rise worldwide, and there is urgent need for the development of effective plans against the increasing incidence of CKD. Podocytes, glomerular epithelial cells, are an integral part of the primary filtration unit of the kidney and form a slit membrane as a barrier to prevent proteinuria. The role of podocytes in the pathogenesis and progression of CKD is now recognized. Podocyte function depends on a specialized morphology with the arranged foot processes, which is directly...
Source: The Keio Journal of Medicine - June 4, 2023 Category: Universities & Medical Training Authors: Kaori Hayashi Source Type: research
Targeting DNA Methylation in Podocytes to Overcome Chronic Kidney Disease
Keio J Med. 2023 Jun 3. doi: 10.2302/kjm.2022-0017-IR. Online ahead of print.ABSTRACTThe number of patients with chronic kidney disease (CKD) is on the rise worldwide, and there is urgent need for the development of effective plans against the increasing incidence of CKD. Podocytes, glomerular epithelial cells, are an integral part of the primary filtration unit of the kidney and form a slit membrane as a barrier to prevent proteinuria. The role of podocytes in the pathogenesis and progression of CKD is now recognized. Podocyte function depends on a specialized morphology with the arranged foot processes, which is directly...
Source: The Keio Journal of Medicine - June 4, 2023 Category: Universities & Medical Training Authors: Kaori Hayashi Source Type: research
Targeting DNA Methylation in Podocytes to Overcome Chronic Kidney Disease
Keio J Med. 2023 Jun 3. doi: 10.2302/kjm.2022-0017-IR. Online ahead of print.ABSTRACTThe number of patients with chronic kidney disease (CKD) is on the rise worldwide, and there is urgent need for the development of effective plans against the increasing incidence of CKD. Podocytes, glomerular epithelial cells, are an integral part of the primary filtration unit of the kidney and form a slit membrane as a barrier to prevent proteinuria. The role of podocytes in the pathogenesis and progression of CKD is now recognized. Podocyte function depends on a specialized morphology with the arranged foot processes, which is directly...
Source: The Keio Journal of Medicine - June 4, 2023 Category: Universities & Medical Training Authors: Kaori Hayashi Source Type: research
Targeting DNA Methylation in Podocytes to Overcome Chronic Kidney Disease
Keio J Med. 2023 Jun 3. doi: 10.2302/kjm.2022-0017-IR. Online ahead of print.ABSTRACTThe number of patients with chronic kidney disease (CKD) is on the rise worldwide, and there is urgent need for the development of effective plans against the increasing incidence of CKD. Podocytes, glomerular epithelial cells, are an integral part of the primary filtration unit of the kidney and form a slit membrane as a barrier to prevent proteinuria. The role of podocytes in the pathogenesis and progression of CKD is now recognized. Podocyte function depends on a specialized morphology with the arranged foot processes, which is directly...
Source: The Keio Journal of Medicine - June 4, 2023 Category: Universities & Medical Training Authors: Kaori Hayashi Source Type: research
