177,633 research outputs found
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics
No full textFragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet expansion that inhibits expression of the FMR1 gene; the gene product, FMRP, regulates mRNA metabolism in the brain and thus controls the expression of key molecules involved in receptor signaling and spine morphology. While there is no definitive cure for FXS, the understanding of FMRP function has paved the way for rational treatment designs that could potentially reverse many of the neurobiological changes observed in FXS. Additionally, behavioral, pharmacological, and cognitive interventions can raise the quality of life for both patients and their families.sponsorship: Randi Hagerman has received grant support from Roche, Novartis, Seaside Therapeutics, Forest, and Curemark to carry out clinical trials for fragile X and/or ASD. She has also consulted with Novartis regarding clinical trials in fragile X syndrome. Giovanni Neri received grant support from Novartis for an in vitro study of AFQ056.This work was supported by grants from VIB, Telethon (GGP10150), Compagnia San Paolo, PRIN 2008, Queen Elisabeth Foundation (NICHD HD036071, HD02274, and NCRR 3UL1 RR024146-04S4), Associazione Italiana Sindrome X Fragile, American National Fragile X, and FRAXA Foundations. We are grateful to Matthew Holt and Tilmann Achsel, and to members of our laboratories for critical reading of the manuscript. We thank Nicholas Rajan for helping with the figures. Due to space constraints, we apologize to our colleagues whose work has not been cited. Further, we limit our discussion to FXS in human and mouse models. (Roche, Novartis, Seaside Therapeutics, Forest, Curemark, VIB, Telethon|GGP10150, Compagnia San Paolo, PRIN, Queen Elisabeth Foundation|NICHD HD036071, Queen Elisabeth Foundation|HD02274, Queen Elisabeth Foundation|NCRR 3UL1 RR024146-04S4, Associazione Italiana Sindrome X Fragile Foundation, American National Fragile X Foundation, FRAXA Foundation)status: Publishe
Box 50, Neg. No. 54265B: Sarah Hagerman
No full textThis black and white photograph features a portrait of Sarah Hagerman - she is sitting and is wearing a dark colored sailor type blouse. Sarah Hagerman ordered the photograph. Mr. Gray\u27s ledger indicates Sarah Hagerman was a Junior at Macksville High School in 1923.https://scholars.fhsu.edu/stafford_county/6849/thumbnail.jp
Box 52, Neg. No. 40312: Clara Hagerman
No full textThis black and white photograph features a portrait of Clara Hagerman - she is sitting and is wearing a dark colored blouse. Clara Hagerman ordered the photograph.https://scholars.fhsu.edu/stafford_county/6987/thumbnail.jp
Box 44, Neg. No. 39863: May Hagerman
No full textThis black and white photograph features a portrait of May Hagerman - she is sitting and is wearing a light dress May Hagerman ordered the photograph. 8th grade graduation, St. John, Kansas.https://scholars.fhsu.edu/stafford_county/6217/thumbnail.jp
Box 30, Neg. No. 40100: Mary Hagerman
No full textThis black and white photograph features a portrait of Mary Hagerman - she is wearing a long light dress and has a diploma in her right hand which is resting on a table. Mary Hagerman - from Syracuse, Kansas ordered the photograph.https://scholars.fhsu.edu/stafford_county/4645/thumbnail.jp
Box 22, Neg. No. 30435: Hagerman Family
No full textThis black and white photograph features a layout of four images of the Hagerman family - Four separate pictures (two are the same). The same girl is in all the pictures, and in one of them a man is sitting next to her. W.W. Hagerman ordered the photograph.https://scholars.fhsu.edu/stafford_county/3354/thumbnail.jp
Box 21, Neg. No. 29006: Hagerman Children
No full textThis black and white photograph features a portrait of the Hagerman children - two girls and a boy are standing next to each other. The girls are wearing dark dresses and the boy is wearing a knickers outfit. Mrs. George Hagerman ordered the photograph.https://scholars.fhsu.edu/stafford_county/3185/thumbnail.jp
Box 50, Neg. No. 54265-A: Sarah Hagerman
No full textThis black and white photograph features a portrait of Sarah Hagerman - she is sitting and is wearing a dark colored sailor type blouse. Sarah Hagerman ordered the photograph. Mr. Gray\u27s ledger indicates Sarah Hagerman was a Junior at Macksville High School in 1923.https://scholars.fhsu.edu/stafford_county/6848/thumbnail.jp
Box 20, Neg. No. 28011: Hagerman Children
No full textThis black and white photograph features a portrait of the Hagerman children - two boys wearing dark colored outfits are standing to the sides of a chair on which a baby wearing a light dress is sitting. George E. Hagerman ordered the photograph.https://scholars.fhsu.edu/stafford_county/3153/thumbnail.jp
Box 4, Neg. No. 30814: Hagerman Family
No full textThis black and white photograph features a portrait of the Hagerman family - a man and woman are sitting with a girl and a boy between them, and two older boys and one older girl are standing behind them. The men and boy are wearing suits and the women and girl are wearing dresses. A portrait of a girl is placed in the middle of the group. W.W. Hagerman ordered the photograph.https://scholars.fhsu.edu/stafford_county/7627/thumbnail.jp
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